Mendelian Inheritance III: Confounders

Question 1

new mutations

Answer 1

an affected child in an unaffected family may suggest a new mutation

Question 2

germline mosaicism

Answer 2

1. a mutation that occurs during embryonic development
2. affected germline cells and unaffected somatic cells result in a “silent” carrier

Consequence: an unaffected father may sire affected children

Question 3

delayed age of onset

Answer 3

Huntington’s Disease, makes the disease hard to catch early

Question 4

reduced penetrance

Answer 4

not all the individuals with the disease genotype exhibit the disease phenotype

Question 5

variable expressivity

Answer 5

individuals experience the disease to varying degrees of severity even though they have the same genotype

Question 6

genetic heterogeneity

Answer 6

allelic and locus heterogeneity

Question 7

locus heterogeneity

Answer 7

mutations in different gene loci produce the same phenotype

Question 8

allelic heterogeneity

Answer 8

different alleles at the the same gene locus produce different phenotypes

Question 9

trinucleotide repeat expansions

Answer 9

lots of shits going on here