IB Biology Notes - 4.

3 Theoretical genetics

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1 Statisical Analysis
Working with data Theoretical genetics
2 Cells
4.3.1 Defne genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus,
Cell theory
Prokaryotic cells
homozygous, heterozygous, carrier and tes cross.
Eukaryotic cells
Genotype: the alleles of an organism.
Membranes
Cell division Phenotype: the characteristics of an organism.

3 Chemical elements and water Dominant allele: an allele that has the same effect on the phenotype whether it is present in the homozygous or
Chemical elements & water heterozygous state.
Carbohydrates, lipids & proteins
Recessive allele: an allele that only has an effect on the phenotype when present in the homozygous state.
Dna structure
Dna replication Codominant alleles: pairs of alleles that both affect the phenotype when present in a heterozygote.
Transcription & translation
Locus: the particular position on homologous chromosomes of a gene.
Enzymes
Cell respiration Homozygous: having two identical alleles of a gene.
Photosynthesis
Heterozygous: having two different alleles of a gene.
4 Genetics
Carrier: an individual that has one copy of a recessive allele that causes a genetic disease in individuals that are
Chromosomes, genes, alleles & mutations
homozygous for this allele.
Meiosis
Theoretical genetics Test cross: testing a suspected heterozygote by crossing it with a known homozygous recessive.
Genetic engineering & biotechnology

5 Ecology and evolution 4.3.2 Determine the genotypes and phenotypes of the ofspring of a monohybrid cross using a
Communities & ecosystems Punnett grid.
The greenhouse effect
Populations
Evolution
Classification

6 Human health and physiology

Digestion
The transport system
Defence against infectious disease
Gas exchange
Nerves, hormones & homeostasis
Reproduction

7 Nucleic acids and proteins

Dna structure
Dna replication

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IB Biology Notes - 4.3 Theoretical genetics

Transcription
Translation
Proteins
Enzymes

8 Cell respiration and

photosynthesis
Cell respiration
Photosynthesis

9 Plant science
Plant structure & growth
Transport in angiospermophytes
Reproduction in angiospermophytes

10 Genetics
Meiosis
Dihybrid crosses & gene linkage
Polygenic inheritance

4.3.3 State that some genes have more than two alleles (multiple alleles).

Some genes have more than two alleles (multiple alleles). 

4.3.4 Describe ABO blood groups as an example of codominance and multiple alleles.
The ABO blood group is a good example of codominance and multiple alleles. There are three allele that control the ABO
blood groups. If there are more than two allele of a gene then they are called multiple allele. The allele IA  corresponds to
blood group A (genotype IAIA) and the allele IB corresponds to blood group B (genotype IBIB). Both of these are dominant
and so if IA and IB are present together they form blood group AB (genotype IAIB). Both allele affect the phenotype since
they are both codominant. Codominant allele are pairs of allele that both affect the phenotype when present together in a
heterozygote. The allele i is recessive to both IA and IB so if you have the genotype IA i you will have blood group A and if
you have the genotype IB i you will have blood group B. However if you have the genotype ii then you are homozygous for
i and will be of blood group O. Below is a table to summaries which genotypes give which phenotypes. 

PhenotypeGenotype 

A                    IAIA or IAi

B                    IBIB or IBi

AB                  IAIB

O                    ii

Below are diagrams illustrating the inheritance of the ABO blood groups.

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IB Biology Notes - 4.3 Theoretical genetics

4.3.5 Explain how the sex chromosomes control gender by referring to the inheritance of X and Y
chromosomes in humans.

There are two chromosomes which determine gender. These are called the sex chromosomes and there are two types, the
X and the Y chromosome. Females have two X chromosomes whereas males have one X and one Y chromosome. The X
chromosome is relatively large compared to the Y (which is much smaller) and contains many genes. The Y chromosome
on the other hand only contains a few genes. The female always passes on to her offspring the X chromosome from the
egg (female gamete). The male can pass on either the Y or the X chromosome from the sperm (male gamete). If the male
passes on the X chromosome then the growing embryo will develop into a girls. If the male passes on the Y chromosome
then the growing embryo will develop into a boy. Therefore gender depends on whether the sperm which fertilizes the egg
is carrying an X or a Y chromosome. 

4.3.6 State that some genes are present on the X chromosome and absent from the shorter Y
chromosome in humans.

Some genes are present on the X chromosome and absent from the shorter Y chromosome in humans. 

4.3.7 Defne sex linkage.

Sex linkage: when the gene controlling the characteristic is located on the sex chromosome and so we associate the
characteristic with gender.

4.3.8 Describe the inheritance of colour blindness and hemophilia as examples of sex linkage.
Most of the time sex-linked genes are carried on the X chromosome. Since females have two X chromosomes they have
two copies of the sex-linked gene whereas males only have one since they only have one X chromosome. Hemophilia and
colour blindness are both examples of sex linkage.

Hemophilia 
XH is the allele for normal blood clotting and is dominate over  Xh which is recessive and causes hemophilia. If a mother is
heterozygous she is a carrier of the disease but does not have hemophilia as the dominate allele is present. She can
however pass the disease on to her offspring. Below is a punnett showing how a carrier mother and an unaffected father
can pass the disease on to their offspring. 

From our four possible outcomes we can see that a female child cannot get hemophilia but can be a carrier. This is
because the father will always pass on the dominate allele (XH) on the X chromosome in females. Depending on whether
the mother passes on the dominant or recessive allele will determine if the female child is a carrier or is unaffected by the
hemophilia. If the child is a boy then the father has passed on the Y chromosome which does not contain the allele of the
gene. So whether the child has the disease or is unaffected depends on which allele the mother had passed on. If she has

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IB Biology Notes - 4.3 Theoretical genetics

passed on the recessive allele (Xh) then the male child will have hemophilia, however if she has passed on the dominate
allele (XH) then the child will be unaffected.

So there is a 50% chance of the child having hemophilia if it is male as half of the eggs produced by the mother will carry
the recessive allele. The chance of a female offspring having hemophilia is 0% since the father always passes on the
dominant allele on the X chromosome. Finally there is a 25% chance overall that the offspring will be affected. 

4.3.9 State that a human female can be homozygous or heterozygous with respect to sex-linked
genes.

A human female can be homozygous or heterozygous with respect to sex-linked genes. 

4.3.10 Explain that female carriers are heterozygous for X-linked recessive alleles.

Female carriers for X-linked recessive alleles are always heterozygous since they require a dominant allele and a recessive
allele to be carriers. They inherit the recessive allele from one parent and the dominate allele from the other. For example
hemophilia is a sex-linked disease. If a carrier mother and an unaffected father have offspring then the unaffected father
will always pass on his dominate allele to his female offspring. The carrier mother can either pass on the dominate or
recessive allele. If she passes on the recessive allele to her female offspring than the female offspring will be a carrier as
well. 

4.3.11 Predict the genotypic and phenotypic ratios of ofspring of monohybrid crosses involving any
of the above patterns of inheritance.

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IB Biology Notes - 4.3 Theoretical genetics

Crossing between two heterozygous individuals gives a 3:1 ratio if one of the alleles is dominate and the other is
recessive. 

4.3.12 Deduce the genotypes and phenotypes of individuals in pedigree charts.

Squares represent males 

Circles represent females 
Shaded symbols represent affected individuals 
Unshaded symbols represent unaffected individuals.

If most of the males in the pedigree are affected the disorder is X-linked.
If it is a 50/50 ratio between men and women the disorder is autosomal.
If the disorder is dominant, one of the parents must have the disorder.
If the disorder is recessive than neither of the parents has to have the disorder as they can be heterozygous.

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