Genetics - Forms of inheritance / single gene disorders Flashcards
the location of the gene on a chromosome is known as the..
a. locus
b. centrosome
c. centriole
a.locus
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
b.polygenic
which of these conditions is not polygenic
a. type 2 diabetes
b. hypertension
c. heart disease
d. obesity
e. lung disease
e. lung disease
which of these diseases can be caused by n mutations to one specific gene
a. huntingtons
b. cystic fibrosis
c. retinitis pigmentosa
b.cystic fibrosis
when a gene at one allele determines the phenotype it is known as
a. autosomal dominant
b. autosomal recessive
a.autosomal dominant
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
a.autosomal dominant
how many of the offspring are affected in autosomal dominant inheritance
a. 25%
b. 75%
c. 50%
c.50%
what is the appearance of a pedigreediagram for an autosomal dominant condition
a. horizontal pattern
b. vertical pattern
b.vertical pattern
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
a.haplo insufficiency
eg polydactyly , marfan syndrome
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
b. dominant negative
when a mutant protein aquires a new deleterious function it is known as..
a. haplo insufficiency
b. dominant negative
c. toxic gain of function
c. toxic gain of function
eg. huntingtons
what condition is caused by a heterozygous mutation in the FGFR3 on chromosome 4
a. achondroplasia
b. progeria
c. marfans
d. huntingtons
a.achondroplasia
when both alleles determine the phenotype it is known as..
a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked
b. autosomal recessive
how many of the offspring are affected in autosomal recessive inheritance
a. 25%
b. 75%
c. 50%
a.25%
how many of the offspring are carriers in autosomal recessive inheritance
a. 25%
b. 75%
c. 50%
c.50%
in cystic fibrosis how many of the offspring are carriers if both parents are carriers?
a. 25%
b. 75%
c. 50%
c.50%
how is pku, sickle cell anaemia and cystic fibrosis inherited
a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. sex linked
b. autosomal recessive
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
b. autosomal recessive
what pattern is seen on the pedigree diagram of autosomal recessive inherited characteristics
a. horizontal
b. vertical
c. no pattern
a. horizontal
which of these genotypes of sickle cell is most common in countries with high malaria rates?
a. SS (non affected)
b. Ss
css
b.Ss
haemophillia is inherited by which mode?
a. autosomal dominant
b. autosomal recessive
c. polygenic
d. epigenetic
e. x linked autosomal recessive
e.x linked autosomal recessive
a carrier of an x linked recessive disorder is ..
a. hetrozygous
b. homozygous
c. hemizygous
c.hemizygous
how many male offspring are affected in an x linked disorder if the mother is affected
a. 25%
b. 75%
c. 50%
c.50%
how many male offspring are affected in an x linked disorder if the father is affected
a. 25%
b. 75%
c. 50%
c.50%
how many female offspring are affected in an x linked disorder if the mother is affected
a. 25%
b. 75%
c. 50%
c.50%
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%
d.100%
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%
e.0% son inherits x chromosome from mother so normal
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
c.male to male transmission cannot occur
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
e.x linked autosomal recessive
mitochondrial disease is found in mtDNA so is only found in the ..
a. ova
b. sperm
a.ova
which genome is more susceptible to mutations
a. nuclear
b. mitochondrial
b.mitochondrial
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
c.mitochondrial