Ch. 12 Gene Mutations

Mutation

Change to a DNA sequence or chromosome

Polymorphism

mutation effecting more than 1% of a population

Germline mutation

can be passed down to the next generation of INDIVIDUALS

Somatic mutation

Genetic change in non-sex cell

• passed down to next cell generation

Mutation of beta globin gene

causes various types of anemia because of too few beta chains

Why is Collagen gene so prone to mutation?

collagen is so symmetrical, even small mutations can cause big damage

inconsistency of sickle cell + cystic fibrosis

• Different mutations in beta globin cause clinically distinct conditions.

• Different mutations in CFTR cause conditions all considered cystic fibrosis.

Allelic disease

Diseases that have different phenotypes, arising from mutation in the same genes

mutation effects in lamin A gene

Mutant lamin A touches chromatin, affecting functions of many genes.