Biochemistry 2280A Study Guide - Quiz Guide: Chronic Granulomatous Disease, Chromosomal Translocation, Retinoblastoma

9 views5 pages

Document Summary

Diversity of organisms -> evolution: mutation can result -> loss of protein function -> alters phenotype of organism, haploinsufficiency: Loss of activity -> one gene of chromosomal pair -> harmful effect -> insufficient synthesis of protein from single remaining gene/chromosome: chromosome abnormalities. Trisomy & downs syndrome -> genetic disabilities: diploid organisms. Heterozygote carriers -> mutation recessive -> requires presence in both alleles to be expressed. >normal (unaffected/unmutated chromosome) in the chromosomal pair -> directs synthesis -> sufficient protein of specific allele for functional gene. >> some carry single mutated allele & are affected -> haploinsufficiency. >both genes must be functional in order to prevent disease -> insufficient protein of specific allele for functional gene. ->heart abnormalities & liver problems -> abnormal bile ducts. >cell to cell signalling during embryo development: carrier of certain genes -> predisposition to disease. Sporadic retinoblastoma -> rare -> throughout population. Familial retinoblastoma -> common in affected families. > 1 functional copy: other causes of disease:

Get access

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

Related Documents

Related Questions