Millonig - Common Disorders with Complex Inheritance

Question 1

Hirschsprung’s Disease

Answer 1

neural crest defect causes enlarged colon
-due to tyrosine kinase mutation
Complex inheritance: ~200 risk ratio for siblings, but not straight AD or AR. 3 genes interact, need 3 mutations to present disease

Question 2

Multifactorial inheritance

Answer 2

inheritance of trait due to 2+ genes and/or interaction with environment

Question 3

Polygenic Inheritance

Answer 3

multiple genes causing phenotype

Question 4

GWAS - Genome Wide Association Analysis

Answer 4

Use microarray, sequence genomes of a ton of people to find single nucleotide polymorphisms associated with disease

Question 5

Heretibility Equation

Answer 5

=variance in dizygotic twins - variance in monozygotic twins / variance in dizygotic
0=no heretibility 1= entirely due to heretibility