Genetics

The Laws of Mendelian Genetics The law of segregation states that during meiosis, each gamete receives only one member of a homologous pair. The law of independent assortment states that it is an equal opportunity that a gamete will receive either homologue. Definitions

gene: a sequence of DNA that codes for a polypeptide allele: an alternate form of a gene locus: location of a gene on a chromosome diploid: chromosomes are in homologous pairs, one from each parent haploid: only one set of chromosomes, usually in gamete zygote: male and female gametes fused to restore the diploid number genotype: actual genetic component; (expressed as which alleles are present) phenotype: expressed trait that can be measured (expressed as trait) dominant: allele that can mask the presence of another allele recessive: allele that can be masked in the presence of another allele incomplete dominance: alleles blended homozygous: alleles are the same heterozygous: alleles are different (sometimes referred to as hybrid) pure breeding: homozygous epistasis: the expression of one gene affects the expression on other genes linkage: two very different types o sex linkage: allele is on the X chromosome, affecting expression in males (males having only one X) o autosomal linkage: loci are one the same chromosome, affecting the phenotypic (and genotypic) ratios of the offspring. Recombination affects linkage by separating the two loci. The percentage of crossover gives an estimate of how close together the two loci are, and is referred to as the number of map units between the loci. Punnett square: a tool to predict the genotypic and phenotypic ratios of offspring from a given mating. parental type: the parents in a cross (P) F1 generation: lit. "first filial", offspring from given cross F2 generation: lit. "second filial", offspring from offspring of given cross test cross: crossing an individual of unknown genotype to a pure breeding recessive to determine genotype of the unknown reciprocal cross: crossing individuals with a given phenotype, switching the sexes of the parental types to determine if the gene is sex-linked.

Monohybrid Cross P: AA x aa F1: Aa A monohybrid cross is the cross of the F1 generation: Aa x Aa.

A AA Aa a Aa aa

The genotypic ratios are 1AA:2Aa:1aa. The phenotypic ratios are 3dominant:1recessive. Test Cross When an individual shows the dominant phenotype, it is impossible to say whether that individual is homozygous or heterozygous for the trait. A mechanism to determine this is a test cross. A pure breeding recessive is crossed with the unknown. The resulting offspring show whether the unknown allele is dominant or recessive.

A ? a Aa ?a a Aa ?a
The possibilities are:

A A a Aa Aa a Aa Aa all dominant
Dihybrid Cross P: AABB x aabb F1: AaBb

A a Aa

a aa

a Aa aa half and half

A dihybrid cross is a cross between two of the F1 individuals: AaBb x AaBb

AB

Ab

aB

ab

AB AABB AABb AaBB AaBb Ab AABb AAbb AaBb Aabb aB AaBB AaBb aaBB aaBb ab AaBb Aabb aaBb aabb
The genotypic rations are 1 AABB:2 AABb:2 AaBB:1 AAbb:4 AaBb:1 aaBB:2 Aabb:2 aaBb:1 aabb. The phenotypic ratios are 9 double dominant:3 first dominant, second recessive:3 first recessive, second dominant:1 double recessive. Linkage Sex Linkage If a gene is located on the X chromosome, the male has the problem that he does not have a homologue for this chromosome. He has a Y chromosome that doesn't have the same information on it as the X. Therefore, whatever

allele he inherits from his mother's X chromosome, he expresses that allele. (Remember he must get his X from his mother, not his father - he had to get the Y chromosome from his father.) Females will show normal mendelian genetics for this trait, as they do have homologues for the X chromosome, one from the mother and one from the father. An example is color blindness. Males who inherit a dominant alelle from their mother show normal vision. Males who inherit a recessive allele from their mother are color blind. Females may be homozygous dominant (normal vision), heterozygous (normal vision, but carriers of the recessive allele), or homozygous recessive (color blind). Below is a cross between a normal male and a carrier female. X^C denotes the X chromosome with the dominant allele. X^c denotes the X chromosome with the recessive allele. Y denotes the Y chromosome.

X^C X^c X^C, X^c

Y X^c, Y

X^C X^C, X^C X^C, Y

Here, the proportions are 1 normal female: 1 carrier female: 1 normal male: 1 color blind male. Autosomal Linkage Autosomal Linkage refers to genes being on the same chromosome. These genes tend to show up together in the same combinations in the offspring. However, recombination, which occurs in prophase I of meiosis, can split the two alleles inherited from a parent, giving recombinant types. These tend to be in smaller proportions than the parental, linked types. The percentage of offspring showing the recombinant types can give an estimate of how close the two genes are to each other on the chromosome. The closer the genes are, the fewer recombinant types should occur. This is because the chances of recombination occurring in the right location to split the two decreases as they get closer and closer together. This estimate is referred to as the number of map units separating the two genes, which is the percentage of recombinant types seen in the offspring. The following is a test cross for an individual with the dominant phenotype for both alleles on known linked genes.

A-b

a-B

a-b A-b, a-b a-B, a-b

The offspring show that the parent has the dominant allele on different homologues because each offspring shows only one dominant trait. Here I will redo problem 15 from the lab manual. In rabbits, C gives color, c is albino. The C gene is epistatic and affects expression of the B gene. If the dominant allele C is present, B gives black, and b gives brown. The problem tells us that the parental types were: CCbb x ccBB We know then the F1 should be: CcBb, all rabbits are black. If we just did a test cross we get:

CB

Cb

cB

cb

cb CcBb Ccbb ccBb ccbb black brown albino albino 25% 25% 25% 25%
This gives us the result of: 50% albinos, 25% black, and 25% brown. We now

can compare these predictions to some actual results: 100 albinos (50%), 25 black (12.5%), and 75 brown (37.5%). These data do not match, so we can assume linkage and redo the cross. The parents were C-b C-b, and c-B c-B. This makes the F1: C-b c-B. The test cross gives us: C-b c-B x c-b. We assume that recombination occurs in some cases to give us C-B and c-b.

C-b

c-B

C-B

c-b

c-b C-b c-b c-B c-b C-B c-b c-b c-b brown albino black albino 37.5% 37.5% 12.5% 12.5% 75% 25%
This gives us a prediction that most of the rabbits will be albinos, and that there will be more browns than blacks. If we use the data provided, we can estimate the percentage of crossover. Working backwards from the data, we can tell that black rabbits are ONE of the recombinant types. There are TWO recombinant types (the other is recombination-linked type albino and cannot be separated from normal-linked type albinos), so the percentage of recombinants is 12.5% * 2 = 25%. This tells us that the normal types occur 75% of the time, so each type, in this case normal-albino and brown should each occur 37.5% of the time.