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University of Toronto Mississauga
Fiona Rawle

Autosomal Dominant Across a population the proportion of affected males should be equal to the proportion of affected females Maletomale transmission can be observed Huntington disease Autosomal Recessive parents of an affected individual are not affected but are gene carriers Sickle Cell Anemia and Cystic Fibrosis XLinked DominantMales more severely affected Some lethal Male is affected all his daughters will be affected but none of his sons will be affected XLinked Recessive Affected males all of their daughters who are then carriers but to none of their sons Women are affected when they have two copies of the disease allele All of their sons will be affected and all of their daughters will be unaffected carriers MitochondrialCytoplasmic only inherited from the mothers egg thus only females can transmit the trait to offspring and they pass it on to all of their offspring Codominant leads to heterozygotes with a different phenotype than that of either homozygote both alleles expressed ABO blood type Incomplete dominance heterozygous individuals display intermediate phenotypes between either homozygous type more similar to one lethal alleles 23 13 distortions in segregation ratios caused by one or more missing classes of progeny Variable Phenotypes Variable expressivity carry the alleles for a trait show a phenotype but to a varying degree of severity Waardenburg syndrome and incomplete penetrance An organism which does not produce the phenotype generally associated with the genotype they routinely occur Polydactyly Three distinct genetic pathways Biosynthetic pathways are networks of interacting genes that produce a molecular compound as their endpoint Signal transduction pathways receive chemical signals from outside a cell and initiate a response inside the cell Developmental pathways direct growth development and differentiation of body parts and structures Pleiotropy is the alteration of multiple distinct traits by a mutation in a single geneThe collaboration of multiple genes in the production of a single phenotypic characteristic or group of related characteristics is termed gene interaction L1 Gregor Mendel Correns de Vries and von Tschermak Transmission genetics Mendelian genetics studies the transmission of traits in successive generations Evolutionary genetics studies the origins of and genetic relationships between organisms and evolution of genes and genome Molecular genetics studies inheritance and variation of nucleic acids and proteins Life 3540 billion years ago Evolution the theory that all organisms are related by a common ancestry and have diversified over time primarily via natural selection Natural selection works at the phenotypic level but is based on underlying genetic variation Organisms carrying certain allele variants have a reproductive advantage over those who do notthe frequencies of alleles associated with each form are altered Phenotypic variation reflects genetic variation Natural selection
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