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How do we account for genetic variation? *Independent assortment *Crossing over *Random fertilization Cross over: Independent Assortment: Chi -Square Analysis: Mendel’s monohybrid and dihybrid ratios are predictions based on the following assumptions: 1. Each allele is dominant or recessive 2. Random segregation of alleles 3. Independent assortment 4. Fertilization is random Chi-Square Analysis: p value (probability): consider as a percentage (i.e. 0.05 = 5%) Example from Table 3.1: 1 Human Pedigrees Pedigree = Female = Male =Unknown *Proband (p) Chapter 4: Modification of Mendelian Ratios Allele *Wild-type allele *Mutant allele Conventional symbols for alleles: recessive allele- initial letter of the name of the recessive trait, lowercased and italicized dominant allele- same letter in uppercase Genetic nomenclature is extremely diverse! Incomplete or Partial Dominance Cross between parents with contrasting traits: Red flowers or white flowers Offspring with an intermediate phenotype: pink flowers 2 Codominance: Example: MN Blood group- red blood cells contain a transmembrane glycoprotein (glycophorin); two different forms of this protein exist, M and N Multiple Alleles: Examples: *Table 4.1: over 100 alleles at a given locus in Drosophila *ABO Blood group in humans *Characterized by the presence of glycoprotein antigens on the surface of red blood cells *Distinct from the M and N antigens *Also exhibits codomiance Lethal Alleles: Example: Coat color in mice *A = agouti = wild-type allele *AY = yellow = mutant allele Dominant Lethal: Huntington’s disease (H); heterozygous individuals (Hh) have late onset 3 Combining modified modes of inheritance: Gene interaction: *Epistasis Example: In Drosophila, the recessive gene eyeless (when homozygous) prevents the expression of eye color genes present in genome *Novel phenotypes due to gene interaction Example: disc -shaped fruit (AABB) X long fruit (aabb) Genes on the X Chromosome: *1909 Thomas Hunt Morgan II III XY IV or XX *Sex chromosomes *Autosomes Example: In Drosophila and all mammals sex chromosomes designated as X and Y XX=female XY=male 4 Genes on the X Chromosome con’t: *X-linkage X-linkage in Drosophila : white mutation (eyes) ½ red ½ white Genes on the X Chromosome con’t: ½ red Sex-limited Inheritance: *Sex-limited trait *holandric genes: genes on the Y chromsome Example: hypertrichosis (ear hair) *autosomal genes Example: milk production in mammals; L=lots, l=little 5 Sex-influenced Inheritance: *Sex-influenced trait Examples: *cleft palate in humans *horns in sheep *pattern baldness in humans Summary: Sex-linked on X or Y sex-chromosome Sex-limited all or none expression by sex Sex-influenced genotype + sex determines phenotype Phenotypic Expression: Gene expression often governed by genotype and environment *Penetrance Example: if 9/10 of individuals carrying an allele express the trait, the trait is said to be 90% penetrant *Expressivity *Temperature *Onset of genetic expression 6