Genetics - Forms of inheritance / single gene disorders

Question 1

the location of the gene on a chromosome is known as the..

a. locus
b. centrosome
c. centriole

Answer 1

a.locus

Question 2

a disease consisting of complex changes in the genome that increase the risk of developing disease is known as..

a. epigenetic
b. polygenic
c. autosomal

Answer 2

b.polygenic

Question 3

which of these conditions is not polygenic

a. type 2 diabetes
b. hypertension
c. heart disease
d. obesity
e. lung disease

Answer 3

e. lung disease

Question 4

which of these diseases can be caused by n mutations to one specific gene

a. huntingtons
b. cystic fibrosis
c. retinitis pigmentosa

Answer 4

b.cystic fibrosis

Question 5

when a gene at one allele determines the phenotype it is known as

a. autosomal dominant
b. autosomal recessive

Answer 5

a.autosomal dominant

Question 6

familial hypercholesterolaemia, inherited breast cancer, and huntingtons are inherited by which mode?

a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked

Answer 6

a.autosomal dominant

Question 7

how many of the offspring are affected in autosomal dominant inheritance

a. 25%
b. 75%
c. 50%

Answer 7

c.50%

Question 8

what is the appearance of a pedigreediagram for an autosomal dominant condition

a. horizontal pattern
b. vertical pattern

Answer 8

b.vertical pattern

Question 9

when one copy of a gene is deleted and the one left is unable to successfully carry out the function it is known as..

a. haplo insufficiency
b. dominant negative
c. toxic gain of function

Answer 9

a.haplo insufficiency

eg polydactyly , marfan syndrome

Question 10

when a mutant protein destroys the activity of a wild type protein it is known as..

a. haplo insufficiency
b. dominant negative
c. toxic gain of function

Answer 10

b. dominant negative

Question 11

when a mutant protein aquires a new deleterious function it is known as..

a. haplo insufficiency
b. dominant negative
c. toxic gain of function

Answer 11

c. toxic gain of function

eg. huntingtons

Question 12

what condition is caused by a heterozygous mutation in the FGFR3 on chromosome 4

a. achondroplasia
b. progeria
c. marfans
d. huntingtons

Answer 12

a.achondroplasia

Question 13

when both alleles determine the phenotype it is known as..

a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked

Answer 13

b. autosomal recessive

Question 14

how many of the offspring are affected in autosomal recessive inheritance

a. 25%
b. 75%
c. 50%

Answer 14

a.25%

Question 15

how many of the offspring are carriers in autosomal recessive inheritance

a. 25%
b. 75%
c. 50%

Answer 15

c.50%

Question 16

in cystic fibrosis how many of the offspring are carriers if both parents are carriers?

a. 25%
b. 75%
c. 50%

Answer 16

c.50%

Question 17

how is pku, sickle cell anaemia and cystic fibrosis inherited

a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked

Answer 17

b. autosomal recessive

Question 18

which type of inheritance tends to skip generations, appears equally in females and males and can be due to common consanguinous mating?

a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked

Answer 18

b. autosomal recessive

Question 19

what pattern is seen on the pedigree diagram of autosomal recessive inherited characteristics

a. horizontal
b. vertical
c. no pattern

Answer 19

a. horizontal

Question 20

which of these genotypes of sickle cell is most common in countries with high malaria rates?

a. SS (non affected)
b. Ss

css

Answer 20

b.Ss

Question 21

haemophillia is inherited by which mode?

a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. x linked autosomal recessive

Answer 21

e.x linked autosomal recessive

Question 22

a carrier of an x linked recessive disorder is ..

a. hetrozygous
b. homozygous
c. hemizygous

Answer 22

c.hemizygous

Question 23

how many male offspring are affected in an x linked disorder if the mother is affected

a. 25%
b. 75%
c. 50%

Answer 23

c.50%

Question 24

how many male offspring are affected in an x linked disorder if the father is affected

a. 25%
b. 75%
c. 50%

Answer 24

c.50%

Question 25

how many female offspring are affected in an x linked disorder if the mother is affected a. 25% b. 75% c. 50%

Answer 25

c.50%

Question 26

if the father is affectd by an x linked recessive disorder what are the chances a daughter is a carrier a. 25% b. 75% c. 50% d. 100%

Answer 26

d.100%

Question 27

if the father is affectd by an x linked recessive disorder what are the chances a son is a carrier a. 25% b. 75% c. 50% d. 100% e. 0%

Answer 27

e.0% son inherits x chromosome from mother so normal

Question 28

what is true of x linkd recessive inheritance a. male to male transmission can occur b. female to male transmission cannot occur c. male to male transmission cannot occur

Answer 28

c.male to male transmission cannot occur

Question 29

red green colour blindness is transmitted through which mode of inheritance? a. autosomal dominant b. autosomal recessive c. polygenic d. epigenetic e. x linked autosomal recessive

Answer 29

e.x linked autosomal recessive

Question 30

mitochondrial disease is found in mtDNA so is only found in the .. a. ova b. sperm

Answer 30

a.ova

Question 31

which genome is more susceptible to mutations a. nuclear b. mitochondrial

Answer 31

b.mitochondrial

Question 32

lactic acidosis and diabetes are transmitted through which mode of inheritance a. autosomal dominant b. autosomal recessive c. mitochondrial d. epigenetic e. x linked autosomal recessive

Answer 32

c.mitochondrial