Patterns of Single-Gene Inheritance

Question 1

what is genotype

Answer 1

all of allele pairs that make up genetic constitution

Question 2

what is haltotype

Answer 2

set of alleles at neighboring loci on one homologous chromosome

Question 3

phenotype is the

Answer 3

expression of genotype

Question 4

homozygote is

Answer 4

a person that has pair of identical alleles

Question 5

heterzygote is

Answer 5

alleles that are different

Question 6

compound heterzygote is

Answer 6

two different mutant alleles of a gene are present

Question 7

hemizygous is

Answer 7

male that has abnormal alleles for gene locus on x chromosome and is affected

Question 8

proband is what

Answer 8

the person with genetic disorder that brought it to attention of geneticist

Question 9

who are first degree realtives

Answer 9

parents, siblings, offspring

Question 10

who are second degree realtives

Answer 10

grandparents, uncles/aunts, nieces/nephews, half sib and grandchildren

Question 11

who are third degree realtives

Answer 11

first cousins

Question 12

sporadic cases happen when

Answer 12

if isolated case is due to new mutation/ family unaffected

Question 13

consanguineous refers to what

Answer 13

family members are related and carry identical mutant

Question 14

loss of function mutation

Answer 14

recessive inheritance, reduces or eliminates function of gene product

Question 15

Blood is what type of genetic expression

Answer 15

codominant expression

Question 16

What alleles are dominant over O allele

Answer 16

A and B

Question 17

Allele O results in…

Answer 17

expression of neither A or B and is recessive

Question 18

X linked conditions are classically seen in what gender

Answer 18

male

Question 19

what are polyglutamine disorders

Answer 19

neurological diseases caused by consecutive gluatmine residues (CAG repeat)

Question 20

anticipation is what

Answer 20

severity of phenotype increases and age of onset decreases as genetic disorder is passed on

Question 21

True/False: mitochondria is maternally inherited

Answer 21

True

Question 22

Genomic imprinting is

Answer 22

expression of disease phenotype depends on if mutant allele is inherited from mom or dad

Question 23

x linked recessive disorders are restricted to

Answer 23

males

Question 24

X inactivation

Answer 24

process greatly affects presentation of X linked phenotype in carrier females