GENETIC FACTORS IN DISEASE

1.
a T In addition there are 2 X chromosomes in females and 1 X and 1 Y in males
b T In contrast to somatic cell nuclei
which are diploid
c F Haploid male cell (sperm) may
contain an X or a Y chromosome
d F Occurs during meiosis
e F One X chromosome is inactive and appears as the Barr body in the nucleus

2.
a T The most common form of numerical chromosome aberration
bT
c T Liveborn frequency is 0.6%
d F Gene expression can be affected by the parental origin of the abnormal
chromosome
e T No genetic material is lost

3.
a F Peripheral blood lymphocytes are the most convenient source for
chromosome study
b F 47,XX,+21
cT
dT
e F 47,XY,+l 8

4.
a F Proband is a male
b T As indicated by the double line
c F Both are alive and unaffected
d F Dizygotic twin
eF

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5.
aT
b F Can be of either sex
c F All female
d F Male to male transmission is characteristically absent in X-linked inheritance
eT

6.
a F 75% will carry the gene, 25% will be
normal homozygotes
b F Children of either sex could be
affected

cT
d T 25% chance that a single child will be
affected
e F 25% chance of a grandchild being
affected

7.
aT
b F Parent is almost always affected
c F An equal chance
d F Unaffected children are free of the
mutant gene
e F Some affected individuals are
clinically normal-'non-penetrance'

8.
a T The most common human aneuploidy
b F Only about 5% are translocations
cT
d F Most siblings will be chromosomally normal
e F Polyploidy = chromosome number is a multiple of 23, e.g. triploidy = 69
chromosomes
9.
a F Cardiac abnormalities are rare
b F Intelligence is usually normal, but mild mental retardation may be seen
c F Affected individuals are typically tall
d F FSH and LH are typically elevated in hypergonadotrophic hypogonadism
e T A secondary phenomenon seen in many types of gonadal failure

10.
a T Due to gonadal (ovarian) dysgenesis
b F Affected individuals are typically short in stature
c T May also be a short neck with low hairline
d T Producing the so called wide carrying- angle
e T Other cardiac abnormalities include aortic stenosis and bicuspid aortic valve

11.
a T Absence of male to male transmission is a key feature of all Xlinked
inheritance
bT
c T If the X chromosome is inherited from the father
d F 50% of his sisters will be carriers and 50% normal
e T All the female children of an affected grandfather would carry the gene

12.
a F Autosomal recessive
bT
cT
d F Autosomal recessive Similarly familial hypercholesterolaemia, adult polycystic
disease and Huntington's disease
eT

13.
a F X-linked dominant mode of inheritance
b T Haernophilia is also an X-linked recessive trait
c F Autosomal dominant
d F Autosomal recessive
eT

14.
aT Like other aminoacidopathies such as phenylketonuria
b F Only congenital erythropoietic porphyria is not inherited as an autosomal
dominant
c T Early onset hereditary ataxia associated with cardiac abnormalities
d T Abnormal copper metabolism leads to neurological and hepatic damage
e T Congenital defect of bilirubin uptake and conjugation

15.
a F Multifactorial disorder
b T Autosomal recessive
c IF Multifactorial disorder
d T Autosomal recessive
e T Autosomal dominant

16.
a F 64 possible codons - the code is said to be degenerate
b T Introns are non-coding regions in base sequences
c F Occurs in the cytoplasm
dT
eT
Sickle-cell anaemia exemplifies such I point mutation'

143
 17.
a F Multifactorial disorder more frequent
in males
b T Risk is greater for children of affected individuals of the less commonly
affected sex
c T Presence of additional affected family
members increases risk
d F In contrast with the chromosomal
disorder Down's syndrome
e T Risks are higher for relatives of an individual with a more severe
malformation

18.
a IF TSH is measured
b T Permitting genetic counselling
cT
d F Used in sickle-cell anaernia
e T Some affected subjects exhibit retinal abnormalities

19.
a F Screening is offered to pregnant women in the UK
b F Confirmatory evidence is obtained by amniocentesis
c F Measured at 16-19 weeks
d T Such as spina bifida and anencephaly
e F Reduced

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20.
a T 95% of patients with AS carry this antigen
b F Association with blood group 0
cT
dT
eT

Also associated with ankylosing spondylitis

21.
a F Enzymes cleave DNA
bT
c T Minute quantities can now be detected with PCR techniques
dT
eT

22.
aT
bT
cT
dT
eT

23.
a T Can be performed as early as 10weeks
b T Safely locates the placenta
c F
dT
eT