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Lecture 1 and 2 notes

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Biomedical Sciences
Peter Boag

Lecture 1 and 2 Notes: Genetics is the study of:  Inheritance  Variation  Coding sequence of DNA  A field that uses inherited variation (either natural or induced) to solve biological problems (understand biological processes) Three broad fields of genetics: 1. Transmission genetics: how traits are passed from parents to offspring 2. Molecular genetics: how the hereditary material controls the expression of genes and thus traits 3. Evolutionary and population genetics: genetic variation and its role in evolution Mendel discovered autosomal inheritance Hypothesis to explain inheritance pattern: Organisms have two copies of a particle (particulate theory) that controls the phenotype and is inherited = a gene Different copies of the gene = alleles Test cross: cross to homozygous recessive to determine if individual showing dominant phenotype is homozygous or heterozygous for dominant allele. Symbols in human pedigrees: Autosomal inheritance: Discovered by Mendel Autosomal recessive:  Males and females affected equally  Skips generations  Common for parents to be related  E.g. cystic fibrosis, albinism, Tay-Sachs disease Autosomal dominant:  Males and females affected equally  Affects every generation  E.g. achondroplasia (dwarfism), Huntington disease Sex-linked inheritance: Discovered by Thomas Hunt: Found results from reciprocal crosses – crosses where phenotypes of male and female parents are reversed (assume homozygous) NB: as males only have one X-chromosome, they are called
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