Non-Mendelian Genetics. Chapter Five
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1 Non-Mendelian Genetics Chapter Five
2 Mendel s Laws 1. Principle of Segregation Two alleles segregate randomly during formation of gametes 2. Independent Assortment Two genes will assort independently and randomly from each other
3 Mendel s Laws Not Perfect: Shortly people began to notice that not all traits are Mendelian This means, they do NOT follow Mendel s laws Was he just plain wrong? Truth is, his laws are correct and did explain how genetics works Real life is just more complicated than peas!
4 Altering Mendel s Ratios Two different types of complications: 1. Genotypic ratios follow Mendel s laws, but phenotypes do not Somehow the underlying genotypic ratios are hidden 2. Mendel s laws do not apply Both genotypes and phenotypes are not following Mendel s laws
5 Type 1 Laws in effect: 1. Lethal genotypes 2. Allelic Heterogeneity 3. Incomplete dominance 4. Epistasis 5. Penetrance 6. Expressivity 7. Pleiotropy 8. Phenocopies 9. Genetic Heterogeneity
6 1. Lethal Genotypes If a certain genotype (combination of alleles) causes death Every genotype causes death if you wait long enough Usually stillbirth or miscarriage Don t ever see the phenotype H h H HH Hh h Hh hh Expect to see 3:1 ratio Instead see 100% dominant
7 1. Lethal Genotypes Mendel s Laws are still correct and still being followed Two alleles; one dominant and one recessive Producing the 1:2:1 genotypic ratio Only the phenotypic ratio that is changed H h H HH Hh h Hh hh Expect to see 3:1 ratio Instead see 100% dominant
8 2. Allelic Heterogeneity More than two alleles of the same gene ex Cystic Fibrosis has hundreds of alleles possible on the same gene Causes differences in phenotype depending on which two alleles a person inherits Still follow Mendel s laws within one cross Individual can only have two alleles (only have two chromosomes) One inherited from mother, one from father
9 3. Incomplete Dominance One allele is not completely dominant over the other Causing the heterozygote to have a third, different phenotype ex Blending in flowers Homo Dominant = red flowers Homo recessive = white flowers Heterozygotes = pink flowers
10 3. Incomplete Dominance ex Blood Types Type A = AA or Ao Type B = BB or Bo Type AB = AB (heterozygote) Type O = oo (homozygous recessive) Still following Mendel s laws: Two alleles per cross 1:2:1 genotypic ratios Just not showing 3:1 phenotypic ratios
11 4. Epistasis Two genes interacting to affect phenotype Therefore Mendel s law about the one gene, is changed by the second gene ex Gene C controls the color of a person s eyes However gene A causes albinism (lack of any pigment anywhere in body) Therefore if a person is carrying gene A it will not matter which genotype for gene C is carried (eyes will be red)
12 4. Epistasis One gene effecting or masking another gene or Two genes controlling same phenotype Mendel s Laws are still working for each individual gene, but phenotype is not determined by that single gene s genotype alone
13 5. Penetrance Sometimes the same genotype will not produce the phenotype in all individuals Penetrance = the percent of individuals who have a certain genotype and show the expected phenotype Mendel traits penetrance = 100 % Some traits penetrance is less than 100%
14 5. Penetrance Decreased penetrance or low penetrance means that some people inherit genotype and yet do not show the phenotype Penetrance is calculated as: Number of individuals who have genotype and expected phenotype Total number of individuals who have genotype (any phenotype) Usually decrease caused by interaction of additional genes or environment
15 6. Expressivity Sometimes the same genotype will produce different degrees of phenotype in individuals Expressivity = the severity or extent of the phenotype an individual shows ex Hypercholesterolemia Some individuals have extremely high cholesterol from birth, others can control with diet and exercise and lead normal lives
16 Penetrance vs. Expressivity Both follow Mendel s laws Genotypic ratio is still 1:2:1 Phenotypic ratio is affected Both have to do with amount phenotype is present Penetrance is all or none, person is affected with disease or not Expressivity is the severity of the phenotype
17 7. Pleiotropy One gene causes more than one phenotype Pleiotropy occurs when one gene controls more than one pathway or is expressed in more than one body part ex One gene makes connective tissue Needed for lens of eye Heart Muscle Limbs, skin and muscles Therefore a mutation in this one gene will cause defects in eye sight, heart attacks, and weakness in muscles and limbs
18 8. Phenocopies Trait is not genetic at all An environmentally caused trait that appears to be genetic/inherited or An environmentally caused phenotype that is the same as an inherited phenotype Not breaking any of Mendel s laws because it s not genetic!
19 9. Genetic Heterogeneity More than one gene producing the same phenotype Phenotype appears not to follow Mendel s laws In reality each separate gene to phenotype correlation follows Mendel s laws ex Retinitis Pigmentosa (RP) Can be Autosomal Dominant, recessive, X- linked depending on which gene(s) individual carries
20 Type 1 Laws in effect: 1. Lethal genotypes 2. Allelic Heterogeneity 3. Incomplete dominance 4. Epistasis 5. Penetrance 6. Expressivity 7. Pleiotropy 8. Phenocopies 9. Genetic Heterogeneity
21 Type 1 Laws in effect: Insert figure 5.2
22 Type 2 Mendel s Laws No Longer Apply 1. Mitochondrial Inheritance Mitochondria have their own DNA, which is solely maternally inherited 2. Linkage Two genes that are close together physically 3. Linkage Disequilibrium Two alleles that are not inherited separately
23 Questions? What are two types of complications that form non- Mendelian phenotype ratios? Which are breaking Mendel s Laws? Which are actually still following Mendel s laws? How does each of them still follow Mendel s Laws if they are producing non-mendelian ratios? What is Linkage? How is genetic distance different than physical distance? How is Linkage Analysis/Mapping done?
24 Next Class: Read Chapter Five and Handout Homework Chapter Five Problems; Review: 1,2,3,6,7,9 Applied: 1,3,10, 15
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Name Period Concept 13.1 Offspring acquire genes from parents by inheriting chromosomes 1. Let s begin with a review of several terms that you may already know. Define: gene locus gamete male gamete female