Final Bio Viva
Final Bio Viva
Final Bio Viva
Сell biology
1. The structure and functions of ribosomes.
Ribosomes consist of two major components: the small and large ribosomal subunits. Each subunit consists of
one or more ribosomal RNA (rRNA) molecules and many ribosomal proteins (RPs or r-proteins).
Function-Ribosomes have two main functions — decoding the message and the formation of peptide bonds.
These two activities reside in two large ribonucleoprotein particles (RNPs) of unequal size, the ribosomal
subunits. Each subunit is made of one or more ribosomal RNAs (rRNAs) and many ribosomal proteins (r-
proteins).
17. The structure of the plasma membrane, according to fluid-mosaic model. Functions of the plasma
membrane.
The fluid mosaic model describes the structure of the plasma membrane as a mosaic of components —
including phospholipids, cholesterol, proteins, and carbohydrates—that gives the membrane a fluid
character. The proportions of proteins, lipids, and carbohydrates in the plasma membrane vary with cell type.
Function - The fluid mosaic model describes the cell membrane as a tapestry of several types of molecules
(phospholipids, cholesterols, and proteins) that are constantly moving. This movement helps the cell
membrane maintain its role as a barrier between the inside and outside of the cell environments.
20. Types of Solutions Based on Solute Concentration. How do red blood cells react in different types
of solution?
There are three types of solutions that can occur in your body based on solute concentration: isotonic,
hypotonic, and hypertonic. An isotonic solution is one in which the concentration of solutes is the same both
inside and outside of the cell. A hypertonic solution means that there is more salt in the solution or
external environment than within the red blood cells. When red blood cells are placed in a hypertonic
solution, water within the cells move out via osmosis into the surrounding solution, causing the red blood
cells to shrink and shrivel.
21. Active transport. The main characteristics of the active transport across the plasma membrane.
In cellular biology, active transport is the movement of molecules across a membrane from a region of their
lower concentration to a region of their higher concentration-against the concentration gradient. Active
transport requires cellular energy to achieve this movement. Primary active transport moves ions across a
membrane and creates a difference in charge across that membrane. The primary active transport system
uses ATP to move a substance, such as an ion, into the cell, and often at the same time, a second substance is
moved out of the cell.
22. Endocytosis. Types of endocytosis (Phagocytosis. Pinocytosis. Receptor-mediated-endocytosis of
macromolecules).
Endocytosis is a cellular process in which substances are brought into the cell. The material to be internalized
is surrounded by an area of plasma membrane, which then buds off inside the cell to form a vesicle
containing the ingested material. Endocytosis includes pinocytosis and phagocytosis.
•There are three types of endocytosis: phagocytosis, pinocytosis, and receptor-mediated endocytosis. In
phagocytosis or "cellular eating," the cell's plasma membrane surrounds a macromolecule or even an entire
cell from the extracellular environment and buds off to form a food vacuole or phagosome.
•Phagocytosis, process by which certain living cells called phagocytes ingest or engulf other cells or particles.
The phagocyte may be a free-living one-celled organism, such as an amoeba, or one of the body cells, such as
a white blood cel.
•In cellular biology, pinocytosis, otherwise known as fluid endocytosis and bulk-phase pinocytosis, is a mode
of endocytosis in which small particles suspended in extracellular fluid are brought into the cell through an
invagination of the cell membrane, resulting in a suspension of the particles within a small vesicle inside the
cell. These pinocytotic vesicles subsequently fuse with lysosomes to hydrolyze (break down) the particles.
This process requires energy in the form of adenosine triphosphate (ATP), the chemical compound mostly
used as energy in the majority of animal cells.
•Receptor-mediated endocytosis, also called clathrin-mediated endocytosis, is a process by which cells
absorb metabolites, hormones, proteins- and in some cases viruses- by the inward budding of the plasma
membrane
23. Exocytosis.
Exocytosis is the process by which cells move materials from within the cell into the extracellular fluid.
Exocytosis occurs when a vesicle fuses with the plasma membrane, allowing its contents to be released
outside the cell. Some examples of cells using exocytosis include: the secretion of proteins like enzymes,
peptide hormones and antibodies from different cells
30. Meiosis. Biological significance of meiosis. Meiosis I division. Stages and general events.
Meiosis is a special type of cell division of germ cells in sexually-reproducing organisms used to produce
the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately result in four
cells with only one copy of each chromosome. It maintains the constant number of chromosomes by
halving the same. In meiosis I, chromosomes in a diploid cell resegregate, producing four haploid
daughter cells. It is this step in meiosis that generates genetic diversity. DNA replication precedes the
start of meiosis I. During prophase I, homologous chromosomes pair and form synapses, a step unique
to meiosis.
In meiosis II, the phases are, again, analogous to mitosis: prophase II, metaphase II, anaphase II, and
telophase II.
meiosis II begins with two haploid (n = 2) cells and ends with four haploid (n = 2) cells.
Satges- (1) proliferation and differentiation of spermatogonia, (2) meiosis, and (3) spermiogenesis,
haploid spermatozoa develop from germ cells in the seminiferous tubules of the testis. ... Thus, the
primary spermatocyte gives rise to two cells, the secondary spermatocytes, and the two
secondary spermatocytes by their subdivision produce four spermatozoa and four haploid cells.
- three phases to oogenesis; namely, multiplication phase, growth phase and maturation phase.
The process of oogenesis occurs in the ovary's outermost layer. A primary oocyte begins the first
meiotic division, but then arrests until later in life when it will finish this division in a developing follicle.
This results in a secondary oocyte, which will complete meiosis if it is fertilized.
Like a sperm cell, the egg contains a nucleus with half the number of chromosomes as other body cells.
Unlike a sperm cell, the egg contains a lot of cytoplasm, the contents of the cell, which is why it is so
big. The egg also does not have a tail.
- The function of the ovum is to carry the set of chromosomes contributed by the female and create the
right environment to enable fertilization by the sperm. Ova also provide nutrients for the growing
embryo until it sinks into the uterus and the placenta takes over.
On the Basis of the Amount of yolk Eggs are grouped into three types on the basis of the amount of
yolk present in them. 4. Macrolecithal or Megalecithal or Polylecithal Egg When the egg contains
large amount of yolk it is said to be macrolecithal or megalecithal egg. It is also called Polylecithal egg.
38. Cleavage and blastulation. The structure of blastula. Types of cleavage according to the type of egg.
The development of multi-cellular organisms begins from a single-celled zygote, which undergoes rapid
cell division to form the blastula. The rapid, multiple rounds of cell division are termed cleavage. After
the cleavage has produced over 100 cells, the embryo is called a blastula.
- Blastula, hollow sphere of cells, or blastomeres, produced during the development of an embryo by
repeated cleavage of a fertilized egg. The cells of the blastula form an epithelial (covering) layer, called
the blastoderm, enclosing a fluid-filled cavity, the blastocoel.
In the absence of a large concentration of yolk, four major cleavage types can be observed in isolecithal
cells (cells with a small, even distribution of yolk) or in mesolecithal cells or microlecithal cells
(moderate amount of yolk in a gradient) – bilateral holoblastic, radial holoblastic, rotational holoblastic
Types of cleavage
Determinate.
Indeterminate.
Holoblastic.
Meroblastic.
39. Gastrulation. The structure of gastrula.
Gastrulation is the process during embryonic development that changes the embryo from a blastula
with a single layer of cells to a gastrula containing multiple layers of cells. Gastrulation typically involves
the blastula folding in upon itself or dividing, which creates two layers of cells.
- Gastrula, early multicellular embryo, composed of two or more germinal layers of cells from which
the various organs later derive. ... The gastrula develops from the hollow, single-layered ball of cells
called a blastula which itself is the product of the repeated cell division, or cleavage, of a fertilized egg.
40. Organogenesis. Enumerate the organs and organ systems which are formed from ectoderm,
mesoderm, endoderm.
Organogenesis, in embryology, the series of organized integrated processes that transforms an
amorphous mass of cells into a complete organ in the developing embryo. The cells of an organ-forming
region undergo differential development and movement to form an organ.
- Ectoderm - ectoderm subsequently gives rise to hair, skin, nails or hooves, and the lens of the eye; the
epithelia (surface, or lining, tissues) of sense organs, the nasal cavity, the sinuses, the mouth (including
tooth enamel), and the anal canal; and nervous tissue,
Mesoderm- skeletal muscles, smooth muscle, blood vessels, bone, cartilage, joints, connective tissue,
endocrine glands, kidney cortex, heart muscle, urogenital organ, uterus, fallopian tube, testicles and
blood cells from the spinal cord and lymphatic tissue.
Endoderm- certain organs, among them the colon, the stomach, the intestines, the lungs, the liver, and
the pancreas. The ectoderm, on the other hand, eventually forms certain “outer linings” of the body,
including the epidermis (outermost skin layer) and hair.
42. What is an Opened, Closed and Isolated Systems? Describe their general characteristics. Give
examples.
opened- in an open system energy and matter can be transferred . cell has open system because it
needed to transfers energy and matter which is done through the semi permeable membrane.boiling
water without a lid. Heat escaping into the air.
- closed - A closed system is one that cannot transfer energy to its surroundings.a cup of coffee with a
lid on it, or a simple water bottle.
- isolated- Isolated system is a system in which both mass and energy transfer doesn't takes place.
Liquid taken in a closed thermos flask. Heat can neither enter nor leave the flask. Similarly liquid or its
vapour cannot go into the surroundings.
Metabolic Action. For something to live, it must consume food and convert that food into energy for
the body. ...
44. Name and explain the general levels of organization of living things.
The biological levels of organization of living things arranged from the simplest to most complex are:
-organelle- An organelle is a subcellular structure that has one or more specific jobs to perform in the
cell, much like an organ does in the body.
-organs- is a collection of tissues that structurally form a functional unit specialized to perform a
particular function.
-organ systems - An organ system is a group of organs that work together to perform one or more
functions.
-populations -A population is defined as a group of individuals of the same species living and
interbreeding within a given area.
-communities - Community, also called biological community, in biology, an interacting group of various
species in a common location.
-biosphere.- The biosphere is a global ecosystem composed of living organisms (biota) and the abiotic
(nonliving) factors from which they derive energy and nutrients.
46. Mendel’s Laws: Law of dominance; law of segregation; law of independent assortment (briefly
describe). (revise: lecture 5 – slides practical class 2.1 in Educational Portal)
Law of dominance - Gregor Mendel's law stating that when two alleles of an inherited pair is heterozygous,
then, the allele that is expressed is dominant whereas the allele that is not expressed is recessive.
Law of Segregation- states that a diploid organism passes a randomly selected allele for a trait to its
offspring, such that the offspring receives one allele from each parent.
Law of independent assortment - stated that when two or more characteristics are inherited, independent
assortment would happen and there would be an equal opportunity for both traits to occur together.
Complete dominance is a form of dominance in heterozygous condition wherein the allele that is regarded as
dominant completely masks the effect of the allele that is recessive.
Ex Eye color
Incomplete dominance is a form of Gene interaction in which both alleles of a gene at a locus are partially
expressed, often resulting in an intermediate or different phenotype. It is also known as partial dominance.
Ex. Eye color
Codominance is a relationship between two versions of a gene. Individuals receive one version of a gene,
called an allele, from each parent. In codominance, however, neither allele is recessive and the phenotypes of
both alleles are expressed.
Ex. In humans would be the ABO blood group, where alleles A and alleles B are both expressed.
48. Multiple genes. ABO group inheritance. (materials of practical class 2.2 in Educational Portal)
Multiple genes - A polygene is a member of a group of non-epistatic genes that interact additively to
influence a phenotypic trait, thus contributing to multiple-gene inheritance, a type of non-Mendelian
inheritance, as opposed to single-gene inheritance, which is the core notion of Mendelian inheritance.
50. Pleiotropy in Humans. Environmental Effects on the Phenotype (revise: lecture 5 – slides 31-34)
Ans. When one single gene starts affecting multiple traits of living organisms, this phenomenon is known as
pleiotropy. A mutation in a gene can result in pleiotropy. One example of pleiotropy is Marfan syndrome, a
human genetic disorder affecting the connective tissues.
51. Linked genes and linkage groups. Crossing over. (revise: materials of practical class 2.4 in
Educational Portal)
Ans. Linked genes refer to the genes that are inherited together with the other gene(s) as they are located on
the same chromosome.
Linkage group, in genetics, all of the genes on a single chromosome. They are inherited as a group; that is,
during cell division they act and move as a unit rather than independently.
Crossing over is the swapping of genetic material that occurs in the germ line. During the formation of egg
and sperm cells, also known as meiosis, paired chromosomes from each parent align so that similar DNA
sequences from the paired chromosomes cross over one another.
52. Sex linked inheritance. Sex-Influenced Characteristics. Sex-Limited Characteristics (briefly explain
and compare). Give examples. – slides 35-37+ materials of practical class 2.3 in Educational Portal)
Sex linked describes the sex-specific patterns of inheritance and presentation when a
gene mutation (allele) is present on a sex chromosome (allosome) rather than a
non-sex chromosome (autosome). In humans, these are termed X-linked recesSive,
X-linked dominant and Y-linked. (One example of a sex-linked trait is red-green
colorblindness.)
Molecular Genetics
53. Structure and function of DNA. DNA conformations. (revise: lecture 2 – slides 3; 10-17; 21-26 +
materials of practical class 3.1 in Edu
Structure
-DNA is made up of molecules called nucleotides.
-each nucleotide is composed of three different components, such as sugar, phosphate
groups and nitrogen bases
-The four types of nitrogen bases are adenine (A), thymine (T). guanine (G) and
cytosine (C).
Functions
-The function of DNA is to store all of the genetic information that an organism needs to
develop, function, and reproduce.
-DNA now has three distinct functions-genetics, immunological, and structural.
DNA conformations can be interconverted by relatively mild changes in conditions or can coexist in a single,
continuous double helix. Sequence-dependent polymorphism is exhibited at the level of single base pairs and
at dinucleotide steps.
54. Replication of DNA. Steps and enzymes. Programmed Senescence Theory. Hayflick Limit. (revise:
lecture 2 – slides 27-46)
DNA replication is the biological process of producing two identical replicas of DNA
from one original DNA molecule.
-Replication occurs in three major steps: the opening of the double helix and separation
of the DNA strands, the priming of the template strand, and the assembly of the new
DNA segment.
55. General structure of RNA. Types and functions of RNA molecules. Central dogma of molecular
biology. Transcription of RNA. (revi slides 2- 6; 45-48; and materials of practical class 4.3 in Educational
Portal
structure of RNA
-RNA consists of ribose nucleotides (nitrogenous bases appended to a ribose sugar)
attached by phosphodiester bonds, forming strands of varying lengths.
-the nitrogenous bases in RNA are adenine, guanine, cytosine, and uracil.
-There are 3 types of RNA, each encoded by its own type of gene:
mRNA- Messenger RNA: Encodes amino acid sequence of a polypeptide.
tRNA- Transfer RNA: Brings amino acids to ribosomes during translation.
rRNA - RiboOsomal RNA: With ribosomal proteins, makes up the ribosome
organelles that translate the mRNA.
Functions of RNA molecules
-Molecular biology suggests that the primary role of RNA is to convert the information
stored in DNA into proteins.
-Perhaps the most notable example is the conversion of precursor messenger RNA
transcripts into mature messenger RNA that is subsequently capable of being translated
into protein.
-Three major steps that significantly modify the chemical structure of the RNA molecule:
the addition of a 5' cap, the addition of a 3' polyadenylated tail, and RNA splicing.
-Splicing: Pre-mRNA splicing involves the precise removal of introns from the primary
RNA transcript.
-RNA Splicing: RNA splicing is a process that removes the intervening, non-coding
sequences of genes.
57. Translation of proteins. Steps and general events. Posttranslational events (Protein folding,
Posttranslational modification of amin (revise: lecture 3 – slides 40; 50-59)
In molecular biology and genetics, translation is the process in which ribosomes in the
cytoplasm or ER synthesize proteins after the process of transcription of DNA to RNA in
the cell's nucleus The entire process is called gene expression.
It includes three steps: initiation, elongation, and termination. After the mRNA is processed, it carries the
instructions to a ribosome in the cytoplasm. Translation occurs at the ribosome, which consists of rRNA and
proteins.
Properties
The code is a triplet codon
The concept of triplet codon has been supported by two types of point mutations:
frame shift, base substitutions.
-The code is non-overlapping-The code is commaless
-The code is non-ambiguous
-The code has polarity
-The code is degenerate:
-The code degeneracy is basically of two types: partial and complete.
-Some codes act as start codons.
59. Regulation of gene expression in procaryotes (positive, negative control). Structure and regulation
of lac-operon. (revise: lecture 4)
-Regulation of gene expression, or gene regulation, includes a wide range of
mechanisms that are used by cells to increase or decrease the production of specific
ene products (protein or RNA).
-The lac operon consists of three structural genes, and a promoter, a terminator,
regulator, and an operator.The three structural genes are: lacž, lacY, and lacA.
60. Regulation of gene expression in eukaryotes. Structure of eukaryotic genes. (revise: lecture 4)
-Gene expression in eukaryotic cells is regulated by repositories as well as by
transcriptional activators.
61 ) Mutations. Classification of mutations. Categories (kind of affected cells) and types (level of genome)
of mutations. Main mechanis scale mutations (chemical alteration, replication error). (revise: lecture 5)
Mutations new sudden inheritable discontinuous variations which are caused by a change in the nucleotide
type and sequence of a DNA segment representing a gene.
Clasification of Mutations:
a) spontaneous mutation - occur naturally,randomly and automatically due to internal reasons.
b) induced mutation - gene mutations that are produced in response to specific external factors &
chemicals.
Categories of mutations:
•Somatic mutations
•Germ line mutations.
Types of gene mutation:
• inversion
•substitution -
• transition
• transversion
• frameshift -
•insertion
•deletion
Main mechanism of mutations:
•chemical alteration - cause new base to be present in the newly replicated daughter molecule.
•Replication error - incorrect base or extra base accidently inserted in daughter molecule.
62) Types of mutagens and their effect.
a) Physical mutagens-
•X-rays
•gammarays } ionizing radiation
•cosmic rays
• UV light - non ionizing radiation
b) Chemical mutagens -
• intercalatting agent
•Base analogue
•Reacting chemicals
c)Biological mutagens-
• transposons
• virus
• bacteria
• fungi
Synonymous mutations - the mutation changes one codon for an amino acid into another codon for that
same amino acid. Also called silence mutation.
Missense mutations - the codon for one amino acid is changed into another amino acid. Also known as
nonsynonymous mutations.
Nonsense mutations - the codon for one amino acid is changed into a translation - termination (stop) codon.
64) Splice Site Mutation. Repeat Expansion Mutation. Mechanisms and examples of human disorder
(revise: lecture 5 – slides 26-29)
Splice site mutation- genetic mutation that inserts, deletes or changes a number of nucleotides in the specific
site at which splicing takes place during the processing of precursor messenger RNA into mature messenger
RNA.
Repeat Expansion mutation - A common mechanism responsible for a number of genetic diseases is the
expansion of a three-base pair repeat. For this reason, they are termed trinucleotide repeat diseases.
Eg: β - Thalessemia , a disease caused by a defect in haemoglobin synthesis , is caused by splice - site
mutation.
65) Repair of DNA. Briefly explain DNA repair mechanisms (DNA proofreading; photoreactivation; direct
repair of a methylated base; b repair; nucleotide excision repair; mismatch repair system). (Revise: lecture
5 – slides 43-50)
DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules
that encode its genome.
DNA repair mechanisms
Enzyme-based repair mechanisms prevent and repair mutations and damage to DNA in prokaryotes and
eukaryotes
Types of Mechanism
•DNA-polymerase proofreading - 3'-5' deoxonuclease activity corrects errors during the process of
replecation.
•Photoreactivation (also called light repair) - photolyase enzyme is activated by UV light (320- 370 nm) splits
abnormal base dimerse apart.
•Demethylating DNA repair enzymes - repairs DNA damaged by alkylation.
•Nucleotide excision repair (NER) - Damaged regions of DNA unwind and are removed by specialised
proteins: new DNA is synthesized by DNA polymerase.
•Methyl-directed mismatch repair - removes mismatched base regions & not corrected by DNA polymerase
proofreading . Sites targeted for repair are indicated in Ecoli by the addition of a methy (CH3) group at a GATC
sequence.
66)The Human Genome Project; ENCODE Project; Human Proteome Project (goals and outcomes). (Revise:
lecture 6 – slides 2-5)
Human Genome Project (HGP)
•It is an international cooperative venture established to sequence the human genome.
•launched in 1990 and completed on April 14, 2003.
•Goals of HGP - determination the base pairs that wake up human DNA & identification and mapping all of
the genes of the human genome from both a physical and functional standpoint.
•HGP showed that humans share the majority of their sequence with short nucleotide polymorphirms
contributing diversity.
•The completion of human genome project lead to:
- Mapping
- screening
- Medicine and Ancestry.
ENCODE project (Encylopedia of DNA elements)
The goal
- to identity non-genetic functional elements in the human genome
-associate changes in the expression of certain genes with the development of the disease.
The elements will include regulatory sequences like
-promoters, enhancers , silencers, repressor-binding sites , transcription factor-binding sites and sites of
chemical modifications such as acetylation & methylation.
-also include sequences that alter chromatin structure by interacting with DNA-binding protein and the
histones that package DNA into nucesome.
Outcomes
-Discovered regulation of gene activity & how genes are expressed.
-Recovered insight into how human genome functions.
-Discovered more than 80 percent of non-gene component of the genome.
Human Proteome Project (HPP)
-International project reganized by HUPD
Goal
-determining the structures and functions of all proteins encoded by the human genome.
-It is designed to map the entire human proteome in a systematic effort using currently available & emerging
techniques.
-Completion of this project will enhance understanding of human biology at cellular level and lay a
foundation for development of diagnostic, prognostic, therapeutic and preventive medical applications.
67)Anatomy of the human genome (briefly describe). Size of human genome. (Revise: lecture 6 – slides 10-
14; 17-23)
-the anatomy of the human genome has been described on the basis of chromosome studies, gene mapping,
and DNA sequencing.
-The total length of the human reference genome, that does not represent the sequence of any specific
individual, is over 3 billion base pairs. The genome is organized into 22 paired chromosomes, termed
autosomes, plus the 23rd pair of sex chromosomes (XX) in the female, and (XY) in the male.
68)Transposable elements in the human’s genome (types and effect of transposition). Mechanisms of
Transposition. (Revise: lecture 6)
Transposable genetic elements of a chromosome that have the capacity to mobilize and move from one
location to another on the genome.
Types-
Autonomous elements-encode information necessary for their own movement and for the movement of
unlinked autonomous elements in the genome.
Non autonomous elements - do not code functions recessary for their own movement, they cannot move
unless an autonomous element from their family are present somewhere else in the genome.
Effects of transposition
-Inactivate a gene in which they reside cause chromosome breaks & transposons to new locations within the
genome.
- cause mutations
- increase or decrease the amount of DNA in the genome.
-can generate chromosomal rearrangements & thus affects the expression of other genes.
Mechanism of transposition
•Replicative-new copy in new location, old copy detained at original site , element is used as template to
produce the new copy.
•Non-replicative - moves to another site without replication of the element (mechanism"Cut & paste")
Use of an RNA intermediate
-element is transcribed.
- reverse transciptase produces a double stranded DNA copy for insertion at another site
- Mechanism "copy and paste".
69)Mitochondrial vs. Nuclear DNA of human genome (briefly describe and compare). (revise: lecture 6 –
slides 10 and 31
-Nuclear DNA. ... The mitochondrial genome is built of 16,569 DNA base pairs, whereas the nuclear genome is
made of 3.3 billion DNA base pairs. The mitochondrial genome contains 37 genes that encode 13 proteins, 22
tRNAs, and 2 rRNAs.
70)Continuous and discontinuous variations (briefly describe and compare). Give examples. Sources
(Causes) of Variation (revise: lect)
Continous variation - An assemblage of measurements of a phenotypic character which forms a continous
spectrum of values.
Eg: body wt, ht, reproductive rate & various behaviour traits
Discontinous variation - variation in phenotypic trait in which types are grouped into discrete categories with
few or no intermediate phenotypes. Eg: tongue rolling, finger prints , eye colour, blood groups
Continuous Discontinuous
- controlled by lot of genes - controlled by few genes
- strongly affected by environment. - little or no effect
- quantitative. - qualitative
- no distinct categories - distinct categories
71)Types and mechanisms of genetic variations (genetic recombination and mutations). (revise: lecture 7 –
slides 7-27)
Genetic variation -
• Genetic recombination
• mutations
Mechanism of genetic recombination
-Independent assortment of chromosomes during meiosis or gamete formation.
-crossing over in prophase I meiotic division
- random fertilisation or random fusion of gametes.
Mutation:
- New sudden inheritable discontiuous variation which are caused by a change in the nucleotide type &
sequence of a DNA segment representing gene.
-The direction of mutation is not predictable
- can be mutated back to wild type.
-may occur in somatic or germinal cells.
-Most mutations are recessive & few are dominant.
Types
• Small Scale changes -
- Substitution
- Deletion
- Insertion
- Inversion
•Large Scale changes -
- Numerical abnormalities
-polyploidy : triploidy, tetraploidy
-aneuploidy : trisomy , monosomy
- Structural
- translocation
- deletion
- inversion
- duplication
- ring maker
72)Types of chromosomal aberrations. Give an example of human chromosomal disorders, caused by the
structural abnormalities. (R slides 15-23)
Types:
- Deletion
- Duplication
- Inversion
-Translocation
Example of human chromosomal disorders:
Turner's syndrome - 47, XXY
Klinefelter syndrome - 47,XYY
73)Types of numerical abnormalities in human karyotype. Briefly explain the mechanism of numerical
abnormalities. Give an exam chromosomal disorders, caused by the numerical abnormalities. (Revise:
lecture 7 – slides 24-32)
Types
- polyploidy : triploidy , tetraploidy
- aneuploidy : trisomy , monosomy
Mechanism
Usualy caused by failure of chromosomal division which results in cells with an extra chromosome or a
deficiency in chromosomes .
Eg:
- Down's syndrome or trisomy 21
- Edward's syndrome or trisomy 18
- Patau syndrome or trisomy 13
74) Mitochondrial DNA mutations. Mitochondrial diseases. (Revise: lecture 7 – slides 33-38)
Mitochondrial DNA mutations
Heteroplasmy - the presence of normal and mutated mt DNA with a cell ( the proportion of mutant mtDNA
molecules determines the severity of diseases
Homoplasmy - all coples of MtDNA are identital within coding region.
Mitochondrial diseases
- severity of diseases is frequently related to the proportion of mutant mtDNA inherited at birth
PMD -
• Genetically inherited and diagnosed by identifying mutations on mitochondrial DNA or nuclear DNA
that result in mitochondrial dysfunction.
• Occur due to germline mutations in mtDNA
• or nDNA genes etc.( encoding protiens)
Eg: CPEO , Leigh syndrome , Pearson syndrome ,etc.
75)Epigenetics. Briefly explain the mechanisms of epigenetics. (Revise: lecture 7 – slides 39-48)
Epigenetics- stably inheritable phenotype changes in a chromosome without alterations in the DNA
sequence.
Mechanism
- Histone modification
- DNA methylation.
Histone modifications
- Acetylation and phosphylation help to open chromatin .
- Another way to open chromatin is chromatin remodelling complex
DNA Methylation
- involves attaching small molecule called methyl groups to segments of DNA.
When methyl groups are added to particular gene , that gene is turned off or silenced & no protein is
produced from that gene. (Closed chromatin, gene silencing).
A probe is a single-stranded sequence of DNA or RNA used to search for its complementary sequence in a
sample genome.
78. Gene cloning. General Characteristics of Cloning Vectors. Recombinant DNA. Steps of Cloning
Genes in vivo (revise: lecture 10 – sli
Ans. Gene cloning is the process in which a gene of interest is located and copied (cloned)
of all the DNA extracted from an organism.
79. Polymerase chain reaction (briefly explain the steps and events) (revise: lecture 10 – slides 7-9)
Ans. It is a technique used to amplify a segment of DNA of interest or produce lots and lots of copies.
Steps
1.The initial step is the denaturation, or separation, of the two strands of the DNA molecule. This is
accomplished by heating the starting material to temperatures of about 95 °C (203 °F). Each strand is a
template on which a new strand is built.
2.In the second step the temperature is reduced to about 55 °C (131 °F) so that the primers can anneal to the
template.
3.In the third step the temperature is raised to about 72 °C (162 °F), and the DNA polymerase begins adding
nucleotides onto the ends of the annealed primers.
At the end of the cycle, which lasts about five minutes, the temperature is raised and the process begins
again.
80. DNA microarrays – method for the Detecting specific sequences of DNA, RNA, and protein (revise:
lecture 11 – slides 10-20)
Ans. A DNA microarray (also commonly known as DNA chip or biochip) is a collection of microscopic DNA
spots attached to a solid surface.
-DNA sequencing is the process of determining the nucleic acid sequence - the order of nucleotides in DNA.It
includes any method or technology that is used to determine the order of the four bases: adenine, guanine,
cytosine, and thymine.
82. Molecular methods for detecting of polymorphisms. DNA fingerprinting (DNA profiling) (revise:
lecture 10 – slides 11-15 and presen practical class 4.3. slides: 12-16)
Ans. Commonly used genotyping methods include gel electrophoresis-based techniques,
such as polymerase chain reaction (PCR) coupled with restriction fragment length
polymorphism analysis, multiplex PCR, and allele-specific amplification.
83. Molecular methods for detecting of polymorphisms. Restriction fragment length polymorphism
(RFLP) (revise: lecture 10 – slides presentation for practical class 4.3. slides: 23-26)
Commonly used genotyping methods include gel electrophoresis-based techniques,
such as polymerase chain reaction (PCR) coupled with restriction fragment length
polymorphism analysis, multiplex PCR, and allele-specific amplification.
Human’s Genetics
84. Fundamental methods in human genetics (briefly describe the methods and name their significance
in human’s genetics). (Revis slides 2-4; 13-16; 38-39 + materials of practical class 4.3 in Educational Portal)
-Human genetics encompasses a variety of overlapping fields including: classical
genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population
genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are
the common factor of the qualities of most human-inherited traits.
-Genetics can help us to understand why people look the way they do and why some
people are more prone to certain diseases than others.
85. Pedigree analysis. Basic Mendelian and Non-Mendelian Patterns (briefly describe the general
characteristics). (Revise: lecture 8 – materials of practical class 4.1 in Educational Portal)
Ans. -By analyzing a pedigree, we can determine genotypes, identify phenotypes, and
predict how a trait wil be passed on in the future.
-The information from a pedigree makes it possible to determine how certain alleles are
inherited: whether they are dominant, recessive, autosomal, or sex-linked.
-Non-Mendelian inheritance is any pattern of inheritance in which traits do not segregate
in accordance with Mendel's laws.
-In Mendelian inheritance, each parent contributes one of two possible alleles for a trait.
86. Methods of the cytogenetics: karyotyping; FISH; determination of the Barr bodies (briefly describe
methods and their significances lecture 8 – slides 16-18; 32; 34 + materials of practical class 4.2 in
Educational Portal)
Ans. -Techniques used include karyotyping, analysis of G-banded chromosomes, other
cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent
in situ hybridization (FISH) and comparative genomic hybridization (CGH).
Fluorescence in situ hybridization (FISH) is a laboratory technique for detecting and locating a specific DNA
sequence on a chromosome. The technique relies on exposing chromosomes to a small DNA sequence called
a probe that has a fluorescent molecule attached to it.
87. Human’s karyotype. Denver system of classification of chromosomes. (revise: lecture 8 – slides 19-
21)
Ans. -The typical human karyotypes contain 22 pairs of autosomal chromosomes and one
pair of sex chromosomes (allosomes). The most common karyotypes for females
contain two X chromosomes and are denoted 46,XX; males usually have both an X and
a Y chromosome denoted 46,XY
-The Denver system of chromosome classification, established in 1959, identified the chromosomes by their
length and the position of the centromeres.
88. Cytogenetics Techniques. Staining and Banding. (Revise: lecture 8 – slides 21-31)
Ans. Staining is used to enhance the contrast between different cellular components thus allowing the proper
visualization of chromosomes with different imaging techniques.Staining allows the proper visualization of
chromosomes.
Banding can be used to study abnormalities in the chromosome such as deletions, insertions, or
translocations. The different banding techniques allow precise identification of each chromosome as well as
to detect structural chromosomal rearrangements.
89. Population genetics. Hardy–Weinberg principle.(law). (Revise: materials of practical class 4.3 in
Educational Portal)
- Population genetics is the study of genetic variation within populations, and involves
the examination and modelling of changes in the frequencies of genes and alleles in
populations over space and time.
- Population genetics is a subfield of genetics that deals with genetic differences within
and between populations, and is a part of evolutionary biology.
Protozoa
90. Entamoeba histolytica. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Endoparasite, Worldwide.
Habitat/Localization- Large intestine, Colon
Disease-amoebic dysentery.
Morphology-E. histolytica occurs in 3 forms.
Trophozoite, Precyst and Cyst.
Trophozoite Trophozoite is the vegetative or growing stage of the parasite. It is the only form present
in tissues. It is irregular in shape and varies in size from 12–60 µm; average being 20 µm.
Precystic Stage Trophozoites undergo encystment in the intestinal lumen.. ¾ Before encystment, the
trophozoite extrudes its food vacuoles and becomes round or oval, about 10–20 micrometer in size. ¾
It contains a large glycogen vacuole and two chromatid bars.
91. Class Sporozoa. Toxoplasma gondii. Habitat. Morphology. Localization. Life cycle. Methods of
diagnosis.
Geographical distribution: worldwide except south Africa
Disease: toxoplasmosis
Morphology: has spherical / ovoid cell surrounding their nucleus is located posterior. It measures
approximately 3 m by 7m.
Life Cycle: invasive stage: trophozite, bradyozoites, sporozoites
Source- uncooked meat ingestion of oocysts, exposure to litter.
Mode- orally.
Laboratory Diagnosis: serological test, pcr , histologic examination
Prevention and Control: avoid drinking untreated water
92. Genus plasmodium. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Asia and south America
Disease: malaria
Morphology: In the erythrocyte, the merozoite appears as a rounded body, having a vacuole in the
centre, with the cytoplasm pushed to the periphery and the nucleus situated at one pole.
Life Cycle: invasive stage; sporozoite
Source; female mosquitos
Mode- skin
Laboratory Diagnosis: When stained with Giemsa or other Romanowsky stains, the cytoplasm is
stained blue and the nucleus red, the central vacuole remaining unstained
Prevention and Control: avoid mosquito contact
93. Genus Leishmania. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Europe and northern Africa
Habitat/localization- The amastigote forms occur in the reticuloendothelial cells of the skin, whereas
promastigote forms are seen in sandfly vector.
Disease: leishmaniosis
Morphology: has two stage promastigote(10-20mm) and amastigote (2.5-5.0mm)
Life Cycle; invasive stage; promastigote
96. Opistorchis felineus. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution northeast Thailand, southern Vietnam:
Localization: bile duct and pancreatic duct
Disease: opisthorchiasis and adult fluke
Morphology:
Life Cycle:
Invasive stage: metacercaria
Laboratory Diagnosis: identification of eggs in stool sample
Prevention and Control: avoidance of fresh water fish that are contaminated
97. Schistosoma haematobium. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Africa and in West Asia
Localization: mesenteric venules of rectum
Disease: snail fever or bilharzia
Morphology ; The male is 10 to 15 mm long by 1 mm thick and covered by a finely tuberculated
cuticle. It has two muscular suckers, the oral sucker' being small and the ventral sucker large and
prominent. Beginning immediately behind the ventral sucker and extending to the caudal end is the
gynaecophoric canal in which the female worm is held
98. Paragonimus westermani. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: America, Africa, south Asia
Localization: lungs
Disease: paragonimiasis
Morphology; The adult worm is egg-shaped about 10 mm long, 5 mm broad and 4 mm thick and
reddish brown in color (Fig. 13.16). The integument is covered with scale like spines. It has an oral
sucker placed anteriorly and a ventral sucker located towards the middle of the body (Fig. 13.17). It has
2 unbranched intestinal caeca which end blindly in the caudal area. They have a lifespan of up to 20
years in humans.
99. Fasciola hepatica. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Caribbean , Europe , Africa
Localization: bile duct
Habitat The parasite resides in the liver and biliary passages of the definitive host.
Disease: liver fluke
Morphology:
Life Cycle: invasive stage:metacercaria
100. Dicrocoelium lanceatum. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Europe , Asia , north Africa
Localization: bile duct
Disease: lancet fluke
Morphology:
Life Cycle:
Infective stage: metacercaria
Definitive host: Sheep and other herbivores
First intermediate host: Snails
Second intermediate host: Ants of genus Formica
102. Taenia saginata. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: Asian countries
Localization: small intestine
Disease: taeniasis
Morphology: The adult T. saginata worm is opalescent white in color, ribbon-like, dorsoventrally
flattended, and segmented, measuring 5–10 m in length. The adult worm consists of head (scolex),
neck, and strobila (body). Scolex: The scolex (head) of T. saginata is about 1–2 mm in diameter,
quadrate in cross-section, bearing 4 hemispherical suckers situated at its four angles.
Life Cycle:
Infective stage: cysterici
Source: uncooked meat
Mode-orally
Laboratory Diagnosis: identification of egg or grovid in fecal mater
Prevention and Control: avoidance of uncooked meat
103. Diphyllobothrium latum. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: northern hemisphere of Europe
Localization: small intestine
Disease: intestinal obstruction
Morphology: Adult worm It is ivory-colored and very long, measuring upto 10 meters or more. It is the
largest tape worm inhabiting the small intestine of man. As in all cestodes, the adult worm has 3 parts:
scolex, neck, and strobila. Scolex (head) is spatulate or spoon-shaped, about 2–3 mm long and 1 mm
broad. It carries 2 slit-Iike longitudinal sucking grooves (bothria), one dorsal and the other ventral. The
scolex lacks suckers and hooks.Neck is thin, unsegmented and is much more longer than the head. D.
latum is a prolific egg layer and a single worm may pass about a million eggs in a day. Egg is broadly
ovoid, about 65 µm by 45 µm, with a thick, light brown shell. It has an operculum at one end and often
a small knob at the other.
Life Cycle:
104. Hymenolepis nana. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: worldwide
Localization: small intestine
Habitat The adult worm lives in the proximal ileum of man. H. nana var. fraterna is found in rodents like
mice and rats, where they are found in the posterior part of the ileum
Disease: hymenolepiasis
Morphology: H. nana is the smallest intestinal cestode that infects man. ¾ It is 5–45 mm in length and
less than 1 mm thick. The scolex has 4 suckers and a retractile rostellum with a single row of hooklets.
The echinococcal egg is roughly spherical or ovoid, 30–40 µm in size. It has a thin colorless outer
membrane and inner embryophore enclosing the hexacanth oncosphere (Fig. 12. 24). The space
between 2 membranes contains yolk granules and 4–8 thread like polar filaments arising from 2 knobs
on the embryophore.
Life Cycle
Infective stage: egg
Source: contaminated food or water
Mode-orally
105. Echinococcus granulosus. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: worldwide
Localization: brain, lungs, head, intestine, liver
Habitat - The adult worm lives in the jejunum and duodenum of dogs and other canine carnivora (wolf
and fox). The larval stage (hydatid cyst) is found in humans and herbivorus animals (sheep, goat, cattle
and horse).
Disease: cystic echinococcosis
Morphology: Adult Worm It is a small tapeworm, measuring only 3–6 mm in length. It consists of a
scolex, a short neck, and strobila. The scolex is pyriform, with 4 suckers and a prominent rostellum
bearing 2 circular rows of hooklets (25–30). The neck is short than the rest of the worm (3 mm ×
6 mm). The strobila is composed of only 3 proglottids, the anterior immature, the middle mature, and
the posterior gravid segment.
The eggs of Echinococcus are indistinguishable from those of Taenia species. It is ovoid in shape and
brown in color. It contains an embryo with 3 pairs of hooklets.
Life cycle:
Infective stage:’ egg
Source: from animals and fecal matter
Laboratory Diagnosis: CT scans ultra scopy and MRI
Prevention and Control: avoidance of contact with animals that are infected
106. Taenia solium. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: worldwide
Localization: intestine
Disease: taeniasis
Morphology: The adult worm is usually 2-3 meters long. The scolex of T. solium is small and globular
about 1 mm in diameter, with 4 large cup-like suckers (0.5 mm in diameter), and a conspicuous
rounded rostellum, armed with a double row of alternating round and small dagger-shaped hooks, 20–
50 in number. The neck is short and half as thick as the head.
Life Cycle:
infective stage: cysterici
Source : uncooked meat
Laboratory Diagnosis: Microscopic identification eggs in the stool • Macroscopic identification of adults
passed in stool or through the mouth or nose
Prophylaxis: Avoid contacting soil that may be contaminated with human feces • Wash hands with soap and
water before handling food • When traveling to areas where sanitation and hygiene are poor, avoid water or
food that may be contaminated • Wash, peel or cook all raw vegetables and fruits before eating
110. Trichocephalus trichiurus. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
(Whipworm)
Geographical distribution: world wide
Localization: The adult worms are found attached to the wall of the caecum and appendix.
Disease: trichocephaliasis
Morphology: the female is slightly longer, about 40 mm to 50 mm • The worm is flesh coloured. • In shape it
resembles a whip • The posterior end of the female is straight, blunt and rounded
The male is 30 mm to 45 mm long • The posterior end of the male is coiled ventrally • One
spicula (copulatory organ
Life Cycle
Infective stage: egg with larva
Definitive host: human
Laboratory Diagnosis: The characteristic eggs are found in stools.
Prophylaxis: Prevention of promiscuous defaecation and proper disposal of faeces would eliminale
transmission of infection. Checking the consumption of unwashed fruits and vegetables grown on polluted
fields can minimise the risk of infection
111. Trichinella spiralis. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: : Europe , America, Malaysia, Vietnam, Thailand, China and Syria
Localization: adult - small intestine, larva – muscles
Disease: Trichinellosis, trichinosis
Morphology: The female about 3 mm by 0.06 mm • The anterior half of the body is thin and pointed,
well adapted for burrowing into the mucosal epithelium.
The male measures about 1.5 mm by 0.04 mm • The posterior end of the male has a pair of pear shaped
clasping papillae, one on each side of the cloacal orifice
Life Cycle
Life Cycle
113. Wuchereria bancrofti. Habitat. Morphology. Localization. Life cycle. Methods of diagnosis.
Geographical distribution: tropics and subtropics of Asia, Africa and South America
Localization: The adult worms reside in the lymphatic system of man. The microfi lariae are found in blood.
Disease: Elephantiasis, Filariasis
Morphology: The adults are whitish, translucent, thread like worms with smooth cuticle and tapering ends.
The female is larger. Males and females remain coiled together usually in the abdominal and inguinal
lymphatics and in the testicular tissues. The worm is ovoviviparous. The embryo (microfilariae) is released
encased in its elongated egg-shell, which persists as a sheath. The microfilaria has a colourless,
Life Cycle;
Infective stage: larvae stage
Definitive host: human
Intermediate host :mosquito
Laboratory Diagnosis: Demonstration of Microfi laria, Lymph node diagnosis, molecular diagnosis
Prophylaxis: Eradication of the vector mosquito ii. Detection and treatment of carriers
Medical imp- Ixodes persulcatus is one of the most important vectors of human-pathogenic viruses and
microorganisms in the temperate area of the Palaearctic region. Some of the pathogens vectored by this tick
species may cause serious disease and even death in humans.
117. Pediculus humanus capitis. Habitat. Morphology. Localization. Life cycle. Medical importance.
Habitat-hair scalp
Morpho-The visual feature which distinguishes the males from the females is the end of the abdomen,
which is rounded in the male louse. Each of the legs is equipped with a single strong claw, allowing the louse to
grip up to six hairs simultaneously in its efforts to remain on the scalp of the host. Males have a pair of simple
eyes on either side of the head, and a pair of short antennae, each having five segments.
All legs of the body louse or head louse are stout; thumblike process of tibia very long and slender, bearing
strong spines, forelegs stouter than the others; abdomen elongate, segments without lateral processes
Localization- head, hair scalp
Life cycle-
Medical imp- louse is the important species involved in actual epidemics of epidemic typhus, relapsing fever,
and trench fever. Louse control, and hence the control of epidemic typhus, has been simplified by the
development of DDT, lindane, and other chlorinated hydrocarbons.
118. Mosquito (Anopheles and Culex). Habitat. Morphology. Life cycle. Medical importance.
Anopheles:
Habitat- aquatic
Morpho- Anopheles are easily distinguished from other mosquitoes: their eggs are laid singly and have
small floats on each side; the larvae lack the long breathing tube found in other mosquitoes; adults have hairs,
but no scales on the abdomen and both sexes have palpi as long as the proboscis. Feeding females assume a
distinctive pose with their abdomen pointed high in the air.
Life cycle- anopheles mosquitoes go through four stages in their life cycle: egg, larva, pupa, and adult. The
first three stages are aquatic and last 7-14 days, depending on the species and the ambient temperature.
Medical imp-Anopheles. are insects that are medically important because of their association with malaria,
filariasis and arbovirus infections. There are nearly 500 recognised species of the Anopheles mosquito.
However, only a small number are vectors for human diseases.
Culex:
Habitat- aquatic
Morpho- Culex mosquitoes have a blunt tip. This mosquito is about 5.5 mm long, brown with white markings
on the legs and mouth parts. Mosquitoes are related to gnats and flies in that they have one pair of wings.
The second pair has been reduced to little knobs to maintain balance in flight.
. A long needle-like proboscis sticks out from the head which is actually a greatly elongated lower lip.
Blood appears to be necessary for development of eggs. Males do not have piercing mouthparts. Both males
and females suck nectar and plant juices. Mosquitoes are very hardy, surviving even arctic conditions.
Life cycle-
Medical imp-Culex is a genus of mosquitoes, several species of which serve as vectors of one or
more important diseases of birds, humans, and other animals. The diseases they vector include arbovirus infections
such as West Nile virus, Japanese encephalitis, or St. Louis encephalitis, but also filariasis and avian malaria.