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BIOL 239 (290)

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BIOL 239
Christine Dupont

Set 32 Pedigree AnalysisMany human traits run in families most do not show a simple Mendelian pattern of inheritance ex hair colour heightWhy Because most are influenced by more than one gene multifactorial Ex eye colouralso environment influences and nutrient statusesMost confirmed singlegene traits in people are relatively rare involving abnormalities that are either disabling or lifethreateningStudying family genetic histories or pedigrees gives insight as to how mutant alleles causing abnormalities are inherited3 all of the following are examples of monomorphic genes with mutant phenotypes showing pleiotropymonomorphic one gene with many different alleles but theres only one wild type allele Ex for humans the wild type is the normal one It isnt necessarily the dominant allele Mutant can be dominant toopleiotropy multiple effects of having that particular allele4 Examples of singlegene traits in humansSicklecell disease abnormal hemoglobin sickleshaped red cells anemia blocked circulation increased resistance to malariaTaysachs disease missing enzyme buildup of fatty deposit in brain buildup destroys nervous development blindness paralysis mental retardationaffects children They are born normal but they go downhill There is a neurological degeneration in which the wrong amino acid is put in and the bodily enzyme doesnt function There is a buildup of fatty acid The child wont live past 7 or 8 years oldPhenylketonuria PKU mutation in enzyme missing in metabolic pathway causes the amino acid phenylalanine to build up children cant metabolize it Body deals with this by converting it to phenylpyruvic acid which interferes with early development of the nervous system mental deficiency in untreated youngaffects children Adults with pku can intake it because their nervous system development is done5 Sicklecell anemiaSingle nucleotide substitution results in incorrect amino acid resulting in a change in conformation of the Bglobin protein when deoxygenated
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