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    2 - Modes of Inheritance

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    Simon Grant
    1. Genes are segments of DNA that code for proteins and are the basic units of inheritance. Genes are located on chromosomes and can have different alleles. 2. There are four main modes of inheritance - dominant, recessive, codominant, and sex-linked. Dominant traits require only one copy of the allele, recessive traits require two copies, and codominant alleles are both expressed. Sex-linked traits are on the X or Y chromosome. 3. Mutations in genes can cause genetic disorders and diseases. A mutation is a change in DNA sequence that creates a new allele. Missense mutations substitute amino acids while nonsense mutations create a stop codon.

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    2 - Modes of Inheritance

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    Simon Grant
    126 views42 pages
    1. Genes are segments of DNA that code for proteins and are the basic units of inheritance. Genes are located on chromosomes and can have different alleles. 2. There are four main modes of inheritance - dominant, recessive, codominant, and sex-linked. Dominant traits require only one copy of the allele, recessive traits require two copies, and codominant alleles are both expressed. Sex-linked traits are on the X or Y chromosome. 3. Mutations in genes can cause genetic disorders and diseases. A mutation is a change in DNA sequence that creates a new allele. Missense mutations substitute amino acids while nonsense mutations create a stop codon.

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    1. Genes are segments of DNA that code for proteins and are the basic units of inheritance. Genes are located on chromosomes and can have different alleles. 2. There are four main modes of inheritance - dominant, recessive, codominant, and sex-linked. Dominant traits require only one copy of the allele, recessive traits require two copies, and codominant alleles are both expressed. Sex-linked traits are on the X or Y chromosome. 3. Mutations in genes can cause genetic disorders and diseases. A mutation is a change in DNA sequence that creates a new allele. Missense mutations substitute amino acids while nonsense mutations create a stop codon.

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    Download as pptx, pdf, or txt
    126 views42 pages

    2 - Modes of Inheritance

    Uploaded by

    Simon Grant
    1. Genes are segments of DNA that code for proteins and are the basic units of inheritance. Genes are located on chromosomes and can have different alleles. 2. There are four main modes of inheritance - dominant, recessive, codominant, and sex-linked. Dominant traits require only one copy of the allele, recessive traits require two copies, and codominant alleles are both expressed. Sex-linked traits are on the X or Y chromosome. 3. Mutations in genes can cause genetic disorders and diseases. A mutation is a change in DNA sequence that creates a new allele. Missense mutations substitute amino acids while nonsense mutations create a stop codon.

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    of 42

    Modes of Inheritance

    Dr shrikant rokade

    BASIC DEFINITIONS

    A gene is a hereditary factor, transmitted from parents to


    offspring, that influences traits among the offspring.
    Physically, a gene consists of a sequence of DNA bases that encode
    a specific protein. The physical location of a gene on a
    chromosome is termed a locus. Variation in the DNA sequence at a
    locus produces different forms of a gene, called alleles.

    Chromosomes vs Genes
    Genes

    constitute distinct regions on

    the chromosome
    Each gene codes for a protein
    product
    DNA RNA protein
    Differences in proteins brings about
    differences between individuals and
    species

    Genebasic unit of inheritance ,that controls the


    development of one trait. A segment of DNA that codes for
    one protein... A sequence of nucleotides on a chromosome
    (chromatin).
    Locus---location of a gene on a chromosome
    Alleledifferent forms of a gene ,or a gene that occupies a specific
    position on a specific chromosome .One allele comes from
    each parent ,Represented by a single letter. Two alleles
    produce a trait (genetically determined characteristics). Traits
    can be dominant or recessive

    EXAMPLES OF ALLELES

    Dwarfism = D
    Normal height = d

    Some alleles may result in a missing or abnormal protein, causing


    disease.
    When a specific site on a chromosome has multiple alleles in a
    population, it is termed a polymorphism (multiple forms).

    The bodys cells can be divided into two groups:


    gametes (sperm and ovum), which are transmitted to offspring, and
    somatic cells (cells other than gametes), which are not transmitted.
    Nearly all somatic cells are diploid, containing 23 pairs of
    chromosomes (one member of the pair from the father, the other
    member from the mother). These 23 pairs consist of 22 pairs of
    autosomes and one pair of sex chromosomes (the X and Y.
    chromosomes).
    Gametes are haploid, having derived only one member of each
    chromosome pair during meiosis

    The specific DNA sequence at a locus is termed a genotype.


    In diploid somatic cells, a genotype may be homozygous (homozygote)
    at a given locus, indicating that the individual inherited the same allele
    from both parents.
    If he or she inherited different alleles from each parent, the genotype is
    heterozygous (heterozygote).
    The genotype is observed physically as a phenotype, which reflects the
    interaction of the genotype with the environment and with genes at
    other loci.

    GENOTYPE
    Ones genetic make up
    Represented by alleles
    E.g. HH & Hh are genotypes

    PHENOTYPE
    Outward expression of a genotype
    Genotype determines the phenotype
    Blue eyes, blonde hair, number of fingers are phenotypes.

    If only one copy of an allele is required for its phenotypic expression, the allele
    is dominant (i.e., it is observable in the heterozygous state).
    If two copies of the allele are required for its expression (i.e., the disease
    phenotype is observable only in the homozygous state), it is recessive.
    The expression of the recessive allele is thus hidden in the heterozygote.
    The terms dominant and recessive provide a convenient classification of
    genetic diseases.
    If two different alleles are both phenotypically expressed in a heterozygous
    genotype, the alleles are said to be codominant.

    EXPRESSION OF DOMINANT & RECESSIVE ALLELES


    Dominant alleles are expressed
    Recessive alleles are not expressed in the presence of a
    dominant allele
    Recessive alleles are only expressed if 2 recessive
    alleles are present

    HOMOZYGOUS
    Both alleles alike
    AA Homozygous Dominant
    aa

    Homozygous Recessive

    HETEROZYGOUS
    Alleles are different
    Aa Heterozygous

    CODOMINANT
    Two different alleles are both dominant
    A = allele for type A blood
    B = allele for type B blood
    AB = results in type AB blood
    OO = results in type O blood
    Note : AA or AO group A & BB or BO group B

    AUTOSOMAL TRAIT
    Alleles are located on an autosome
    Homologous pairs 1-22.

    X-LINKED TRAITS
    Alleles are on the X chromosomes.
    More alleles have been found on the X set chromosome than
    the Y chromosome at this time.
    Females have two X alleles therefore they are often carriers
    of a trait.
    Males have only one X chromosome, therefore they usually
    express the trait.

    AUTOSOMAL TRAITS

    Examples of Some Common Autosomal Dominant Diseases


    Frequency/1000birth

    Disease

    ?5

    Inherited colon cancer

    ?5

    Inherited breast cancer

    Familial hypercholesterolaemia

    1.0

    Von Willebrand disease

    1.0

    Adult polycystic kidney disease

    0.5

    Huntington disease

    0.4

    Neurofibromatosis

    0.2

    Myotonic dystrophy

    0.1

    Dominant blindness

    0.1

    Dominanat congenital deafness

    Examples of Some Autosomal recessive diseases


    Frequency/1000birth

    Disease

    0.5

    Cystic fibrosis

    0.5

    Recessive mental retardation

    0.2

    Congenital deafness

    0.1

    Phenylketonuria

    0.1

    Recessive blindness

    0.1

    Adrenogenital syndrome

    Ethnic association with some autosomal recessive diseases


    Ethnic group(s)

    Disease

    Mediterraneans, Thais, blacks, Middle East,


    Population, Indians, chinese

    Beta-thalassemia

    US and African Blacks, Asian Indians,


    Mediterraneans ( Specially Greeks) and
    Middle East populations

    Sickle cell disease

    Ashkenazi Jews

    Tay-Sachs disease

    Ashkenazi Jews

    Gaucher disease

    Caucasians

    Cystic fibrosis

    Hopi Indians

    Albinism

    Autosomal recessive inheritance


    1. SICKLE CELL ANEMIA
    Recessive alleles, codes for hemoglobin with 1 amino acid which
    is incorrect.
    This results in red blood cells with a sickle shape, reduced
    oxygen carrying capacity, and often plugging up small blood
    vessels.
    Homozygous recessive, ss have sickle cell anemia.
    Heterozygous, Ss are carriers.

    SICKLE CELL ANEMIA

    RBCs sickle shaped


    Anemia
    Pain
    Stroke
    Leg ulcers
    Jaundice
    Gall stones
    Spleen, kidneys & lungs

    Autosomal recessive inheritance


    ALBINISM
    Lack of pigment
    Skin
    Hair
    Eyes

    Tyrosine

    Tyrosinase

    AA = Normal pigmentation
    Aa = Normal pigmentation
    aa = Albino

    DOPA
    Melanin
    Pigment

    Autosomal recessive inheritance


    PKU DISEASE
    Phenylalanine excess
    Mental retardation if untreated

    Phenylalanine

    Phe
    hydroxylase
    PP = Normal
    Pp = Normal
    pp = PKU

    Tyrosine

    SEX-LINKED TRAITS

    Examples of Some Human X-linked recessive traits


    UK/frequancey/10 000 males

    800

    Trait

    Red-green colour blindness

    Fragile X- syndrome

    Duchenne muscular dystrophy

    Haemophilia A ( factor VIII)

    0.3

    Haemophilia B ( factor IX)

    An Example of human X- linked dominant traits


    Vitamin D resistant rickets

    X-linked recessive trait


    HEMOPHILIA
    Blood clotting impaired
    More common in males
    Recessive allele, h
    carried on X chromosome

    Summary
    Genotypealleles found at a locus
    Phenotypephysically observable features
    Homozygotealleles at a locus are the same
    Heterozygote-alleles at a locus are different
    Dominantrequires only one copy of the mutation to produce
    disease
    Recessiverequires two copies of the mutation to produce disease

    A mutation is an alteration in DNA sequence (thus, mutations


    produce new alleles).
    When mutations occur in cells giving rise to gametes, they can be
    traitsmined to future generations.
    Missense mutations result in the substitution of a single amino
    acid in the polypeptide chain (e.g., sickle cell disease is caused by a
    missense mutation that produces a substitution of valine for
    glutamic acid in the globin polypeptide).
    Nonsense mutations produce a stop codon, resulting in premature
    termination of translation and a truncated protein.

    A- single base mutation (Point mutation) may be:


    1. Silent Mutation
    This occurs if the resulting codon still codes for the same amino
    acid. It is more likely to occur if the change occurs in the third
    base of the codon. If A in the codon for serine, UCA, is changed to
    C, the resulting codon, UCC, still codes for serine.

    2. Missense Mutation
    This occurs if the resulting codon codes for a different amino acid.
    It is more likely to occur if the change occurs in the first or second
    base of the codon. If U in the codon for serine, UCA, is changed to
    C, the resulting codon, CCA, codes for proline.

    3. Nonsense Mutation
    This occurs if the resulting codon codes for termination of the
    peptide chain. If C in the codon of serine, UCA, is changed to G,
    the resulting codon, UGA, leads to termination of translation.

    U A A
    (Termination codon)
    Nonsense
    mutation
    U C A
    (codon for serine)
    Missense
    mutation

    Silent
    mutation

    U C U
    (codon for serine)

    C C A
    (codon for proline)

    Nucleotide bases may be inserted or deleted. When the number of


    inserted or deleted bases is a multiple of three, the mutation is said
    to be in-frame.
    If not a multiple of three, the mutation is a frameshift, which
    alters all codons downstream of the mutation, typically producing
    a truncated or severely altered protein product.
    Mutations can occur in promoter and other regulatory regions or
    in genes for transcription factors that bind to these regions. This
    can decrease or increase the amount of gene product produced in
    the cell.

    B- Other mutations: These can alter the amount or structure


    of the protein produced by translation.
    I- ADDITION OR DELETION OF NUCLEOTIDES
    1. Addition or Deletion of One or Two Nucleotides

    This results in a frame shift mutation, leading to a change in


    all codons after (on the3 side) the addition or the deletion.

    2. Addition or Deletion of 3 Nucleotides

    This leads to addition or deletion of one amino acid to the


    peptide chain. The reading frame is not changed.

    Addition of base
    mRNA
    U C A U C C U A U G G C U
    Ser

    Ser

    Tyr

    Gly

    Addition of U
    U
    U C A C C U A U G GCU
    5-End

    3-End
    Ser

    Pro

    Met

    Ala

    Deletion of C
    C
    U C A C U A U G G C U
    Ser

    Leu

    Trp

    Deletion of base

    II- Splice site mutations: Mutations at splice sites can alter the way in
    which introns are removed from premRNA molecules, producing
    aberrant proteins.

    III- Trinucleotide repeat expansion: Occasionally, a sequence of


    three bases that is repeated in tandem will become amplified in
    number, so that too many copies of the triplet occur.
    If this occurs within the coding region of a gene, the protein will
    contain many extra copies of one amino acid.
    If the trinucleotide repeat expansion occurs in the untranslated
    portion of a gene, the result can be a decrease in the amount of
    protein produced .
    Huntington disease
    5

    Fragile-X syndrome
    AAAA

    (CAG)11-34
    Tandem repeats of CAG triplets
    coding for glutamine

    AAAA

    (CG)7-50

    Mutations can also be classified according to their phenotypic


    effects.
    Mutations that cause a missing or decreased protein product are
    termed loss-of-function.
    Those that produce a protein product with a novel or abnormal
    function are termed gain-of-function.

    The recurrence risk


    The recurrence risk : is the probability that the offspring of a
    couple will express a genetic disease. For example, in the mating of
    a normal homozygote with a heterozygote who has a dominant
    disease-causing allele, the recurrence risk for each offspring is 1/2,
    or 50%. It is important to remember that each reproductive event
    is statistically independent of all previous events. Therefore, the
    recurrence risk remins the same regardless of the number of
    previously affected or unaffected offspring.
    Determining the mode of inheritance of a disease (e.g., autosomal
    dominant vs. autosomal recessive) enables one to assign an
    appropriate recurrence risk for a family.

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