Genetics - complex inheritance

Question 1

Frequency with which a trait is manifested by individuals carrying the gene.

Answer 1

Penetrance

Question 2

Mutation of CFTR causes what disease?

Answer 2

CF (autosomal recessive)

Question 3

Genes expressed from only one chromosome ( either paternal or maternal) - get disease either from mother or either from father - not both

Answer 3

Genetic imprinting

Question 4

inheritance of 1 parental origin

Answer 4

Uniparental disomy (UPD)

Question 5

Single nucleotide base change, insertion, or deletion of the genetic material, DNA or RNA

Answer 5

Point mutation

Question 6

Those containing more than two paired (homologous) sets of chromosomes.

Answer 6

Polyploidy

Question 7

Copies of mitochondrial DNA - contain both mutant DNA - disease depending on degree of mutation

Answer 7

Heteroplasmy

Question 8

Copies of mitochondrial DNA are all identical - all WT and no disease

Answer 8

Homoplasmy

Question 9

UPD = 2 x maternal gene = increased embryo mass = ovarian

Answer 9

gyogenic

Question 10

UPD = 2 x paternal gene = mass of placenta = hydatidiform mole

Answer 10

androgenic

Question 11

Prader Willi Syndrome (PWS) -

Answer 11

Paternally expressed
Female UPD - imprinting disorder
deletion
marked obesity and short stature

Question 12

Angelman Syndrome

Answer 12

Maternal expressed
deletion
imprinting disorder
epilepsy, mental retardation, inappropriate laughter

Question 13

Mutation hotspot

Answer 13

mitochondria
high mutation rate
decreased repair, protective proteins.e.g. histones, increased ROS

Question 14

HTT gene, CAG rpt

Answer 14

HD

Question 15

DMPK, CTG rpt

Answer 15

Myotonic Dystrophy

Question 16

FMR1, CGG rpt

Answer 16

Fragile X syndrome

Question 17

Disease presents early age

Answer 17

Triplet Repeat Expansion