BIOL 461 Lecture Notes - Lecture 11: Null Allele, Haploinsufficiency, Silent Mutation

93 views7 pages
21 Feb 2018
Department
Course

Document Summary

Geneticist trying to infer the function based on the phenotype. Part of inferring what the function is requires understanding how your mutations are affecting the level of activity of the gene product. Wt genotypically individual will have two (diploids) copies of every gene (autosomal genes) 2 wt copies of each gene, and that will mean that they have a wt level, or (cid:1005)(cid:1004)(cid:1004)% of that ge(cid:374)e"s activity. Defined by the gold standard of a deletion of a gene could be classical deletion, knockout, wtv. If you have a homozygote for the null allele, have no gene function, look for phenotype. There are a minority of genes where the heterozygote shows a mutant phenotype, refer to that as haploinsufficiency. Haploinsufficient if the heterozygote for a null over wt produces a mutant phenotype: threshold is higher than 50% We do not call the normal case where the heterozygote deletion has no phenotype haplosufficient, most genes are not haploinsufficient.

Get access

Grade+
$40 USD/m
Billed monthly
Grade+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
10 Verified Answers
Class+
$30 USD/m
Billed monthly
Class+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
7 Verified Answers

Related Documents

Related Questions