phuluong2k
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What is allelic heterogeneity ? give example
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| knasim
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Different mutations in the same gene causing different diseases. Examples. Cystic fibrosis and beta-thalassaemia.
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| merrk
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Type of variable expression
Allelic heterogenicity is the presence of differnt mutations, or alleles. in the same locus
same disease, but different severity (variable expression)
eg. missence mutation in the factor VII gene may cause less severe mutation than do nonsense mutations, which result in a truncated protein and little expression of factor VIII
CF most common mutation is at locus delta F 508 ch 7 3 nucleotide base deletion, but there are others too. (?)
Beta thalesemia there is decrease in B globin gene production on Ch 11
mild anemia due to DNA splicing defects
Severe anemia due to nonsense mutation with formation of a stop codon.
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