Inheritance patterns

Question 1

what are the 3 mendelian laws

Answer 1

Dominance
Segregation
Independent assortment

Question 2

Autosomal is

a)all chromosomes excluding sexchromosomes
b) sex chromosomes

Answer 2

a

Question 3

what is mendelian inheritance

a) autosomal, sex linked, dominant, recessive
b) imprinting, mitochondrial inheritance, multifactorial, mosaicism

Answer 3

a

Question 4

Define homozygous and hetrozygous

Answer 4

Homo= presence of identical alleles at locus
Hetro= presence of 2 different allies at given locus

Question 5

Define allelic heterogeneity

Answer 5

Mutations within same gene cause same clinical condition (like CF)

Question 6

what is the most common autosomal recessive condition on the UK

Answer 6

Cystic fibrosis

Question 7

which gene Is affected in cystic fibrosis

Answer 7

CFTR

Question 8

what is consanguinity

Answer 8

Reproductive union between 2 relatives

Question 9

Define autozygousity

Answer 9

Homogyzosity by decent (inheritance of same altered allele through 2 branches of same family) (consanguinous )

Question 10

A carrier (asymptomatic) individual with regards to an autosomal recessive condition has what % chance of having affected offspring

Answer 10

25%

Question 11

Define autosomal dominant inheritance

Answer 11

Disease/condition manifests in heterozygous state

Question 12

are men and women affected differently or equally in Autosomal Recessive conditions

Answer 12

equally

Question 13

Are men and women affected differently or equally in autosomal dominant condiments

Answer 13

equally

Question 14

Define penetrance

Answer 14

% of people with specific genotype showing expected phenotype

Question 15

Define expressivity

Answer 15

Range of phenotypes expressed by a singe genotype

Question 16

What is anticipation

Answer 16

Autosomal dominant Genetic disorder affects successive generations early or more severely

Question 17

Define gonadal mosaicism

Answer 17

When there are 2 different populations of cells in the gonads. One population is normal and the other is mutated. All gametes from the mutated line are effected.

Question 18

Define sex limiting

Answer 18

A condition that affects one sex more than the other (such as BRCA1/2 beast cancer in women)

Question 19

What is X-linked

Answer 19

Genes carried only on the X chromosome

Usually only males affected
Transmitted (usually) through unaffected females
No male-to-male transmission

Question 20

define Lyonization

Answer 20

One of the female X chromosomes becomes inactivated early in embryogenesis.

Question 21

what type of inheritance pattern is Duchenne muscular dystrophy

Answer 21

X linked

Question 22

define Homoplasmy

Answer 22

a eukaryotic cell whose copies of mitochondrial DNA are all identical (identically normal or have identical mutations)

Question 23

are Mitochondrial DNA inherited from mother or father?

Answer 23

mother

Question 24

define Heteroplasmy

Answer 24

multiple copies of mtDNA in each cell