Human Genetics (Outline) • Define “karyotype”: autosomal chromosomes and sex chromosomes • Mendel and terminology. • Medelian Pattern of single autosomal gene inheritance; Punnett square • Test cross and purpose. • Pedigrees used to determine the pattern of inheritance and make genetic predictions. • Gender determination in mammals; X- or Y-linked genes. Pattern of inheritance of sex-linked genes • Explain X-inactivation in females. • Inheritance of mitochondrial genes • Phenotypic expression and multi-factorial traits Mendelian characters and provide examples for each: incomplete dominance, co-dominance & multiple allele, pleiotropy, polygenic inheritance. • Non-genetics phenotypic expression: environmental effect and epigenetics
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Human Genetics (Outline)• Define “karyotype”: autosomal chromosomes and sex chromosomes• Mendel and terminology.• Medelian Pattern of single autosomal gene inheritance; Punnett
square • Test cross and purpose.• Pedigrees used to determine the pattern of inheritance and make
genetic predictions.• Gender determination in mammals; X- or Y-linked genes. Pattern of
inheritance of sex-linked genes• Explain X-inactivation in females.• Inheritance of mitochondrial genes• Phenotypic expression and multi-factorial traits Mendelian characters
and provide examples for each: incomplete dominance, co-dominance & multiple allele, pleiotropy, polygenic inheritance.
• Non-genetics phenotypic expression: environmental effect and epigenetics
These are sex chromosomesThe chromosome pairs 1 trough 22 are autosome
Karyotype; display of condensed human chromosomes
Patterns of InheritanceGregor Mendel
- Studied variation in plants, patterns of inheritance in garden peas
- Used math to explain biological phenomena
TerminologyCharacter or characteristic: a heritable
feature e.g. flower color
Trait: variant of the character e.g. purple or white
Mendel focused on characters with two variants “either-or” traits