Mendelian Genetics.1 pp.Handout.2013

Mendelian Genetics.1 pp.Handout.2013 - Mendelian Genetics 1...

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Mendelian Genetics 1. How does sexual reproduction produce genetic variation? 2. How do you predict the genotypes of offspring from those of their parents?
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Human Genetic Disorders Autosomal single-locus recessive 1. Sickle cell anemia 2. Cystic fibrosis Autosomal single-locus dominant 1. Huntington’s disease 2. Marfan’s syndrome
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MONOHYBRID CROSS: AUTOSOMAL 1 LOCUS, 2 ALLELES Father Mother Normal: S Mutant (causes disease): s S 1 2 s 3 4 Which cell(s) contain(s) genotypes that will result in offspring with the disease? A. 1 B. 2 C. 2 & 3 D. 3 E. 4 Disease-causing allele is RECESSIVE . Examples : Sickle cell anemia; cystic fibrosis;
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MONOHYBRID CROSS: AUTOSOMAL 1 LOCUS, 2 ALLELES Father Mother Normal: S Mutant (causes disease): s S _ _ _ _ s _ _ _ _ Disease-causing allele is RECESSIVE . Examples : Sickle cell anemia cystic fibrosis 1. Both parents are carriers/ heterozygotes; 2. One in four children will experience the genetic disease; 3. Two in four children will be carriers.
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PEDIGREE DIAGRAMS FOR INHERITANCE OF AN AUTOSOMAL RECESSIVE TRAIT: 1 LOCUS-2 ALLELES.
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Huntington's Disease: Autosomal DOMINANT Dominant genetic mutation Fatal neurodegenerative disorder Late-onset symptoms (35-45 years)
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Jeffry Ross Hyman (aka Joey Ramone) Marfan’s Syndrome: Autosomal DOMINANT Dominant genetic mutation Gene discovered in 1991: FBN1 (fibrillin 1) Michael Phelps
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Father Mother Mutant (causes disease): S Normal: s s 1 2 s 3 4 Which cell(s) contain genotypes that will result in offspring with the disease? A. 1 B. 2 C. 1 & 3 D. 2 & 4 E. 4 MONOHYBRID CROSS: AUTOSOMAL 1 LOCUS, 2 ALLELES Disease-causing allele is DOMINANT . Examples : Huntington’s Disease; Marfan’s Syndrome; hematochromatosis 4
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Father Mother Mutant (causes disease): S Normal: s s _ _ _ _ s _ _ _ _ Father will eventually develop the disease. Two of four offspring (on average) develop the disease; There are no “carrier” individuals with a dominant disease causing allele.
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Mendelian Genetics.1 pp.Handout.2013 - Mendelian Genetics 1...

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