Human Genetics and Inheritance

Question 1

What is a Dominant Negative Allele how is it inherited?

Answer 1

distrupts function of wild-type allele in the same cell (frequently dominant phenotype)

Question 2

Compound Heterozygote

Answer 2

Two different mutant alleles at a given locus

Question 3

Autosomal Dominant Inheritance Pattern

Answer 3

Vertical transmission, 50% of offspring of affected parent is affected, unaffected individuals don’t broadcast trait, males and females equally affected

Question 4

Heterogeneity

Answer 4

Similar phenotype caused by different genotypes
Locus - mutations at different loci
allelic - different mutations at the same locus

Question 5

Linkage

Answer 5

co-inheritance of two or more non-allelic genes at nearby loci

Question 6

Autosomal Recessive Inheritance Pattern

Answer 6

Horizontal transmission
25% recurrence risk
males and females equally affected
increased consanguity in peidgree

Question 7

X-Linked Recessive Inheritance Pattern

Answer 7

much more common in males
100%of daughters of affected males are carriers
50% of sons of carrier females are affect and 50% of daughters carriers
no father-to-son transmission
trait can be transferred through carrier females