GCD 3022 Lecture 4

genetics

Autosomal recessive inheritance

The process by which an individual receives two recessive mutated genes from parents

Autosomal dominant inheritance

The process by which an individual receives a dominant allele from parent(s)

X linked recessive inheritance

a genetic transmission pattern where a mutation on the X chromosome causes a trait or condition to be expressed in males who carry it, EX: muscular dystrophy

Why do only heterozygotes carry diseases due to haploinsufficiencies

Because 50% of the dominant protein ins’t sufficient to produce a normal phenotype

What is achondroplasia?

A gain of function mutation causing the gene encoding fibroglast is over active leading to shortened bones

What is Marfan syndrome

Due to a dominant negative mutation heterozygous individuals produce an altered protein that causes weakened tissue

Genetic testing

genetic analysis of an individual, EX: protein level testing such biochemical and immunological

Genetic screening

population wide genetic analysis

What are prions

infectious agents composed entirely of protein

Normal prions

don’t cause disease and aid nerve and brain tissue

Abnormal prions

Misfolded protein structures that clump together and destroy cells, they can convert normal proteins

How are abnormal prions obtained

Being infected by another individual or eating meat containing prions