GENETIC FACTORS IN DISEASE

ANSWERS BEGIN ON P.
142

1.

In humans

a somatic cell nuclei contain 22 pairs of homologous autosomes

b gamete nuclei are haploid with a single X or Y chromosome

c the haploid male cell (sperm) contains 22 autosomes and a Y chromosome

d pairing of homologous chromosomes occurs during mitosis

e both X chromosomes in females are genetically active

2.

In the chromosomal disorders

a aneuploidy is the addition or loss of a chromosome

b deletions arise from the loss of a segment of a chromosome

c the majority of affected conceptions result in miscarriage

d identical deletions produce the same effects whether inherited from father or
mother

e translocation is the exchange of segments between chromosomes

3.

The karyotype of a

a human is usually identified using bone marrow cells

b female with Down's syndrome is 46,XX,-21

c male with Klinefelter's syndrome is 47,XXY

d female with Turner's syndrome is 45,X

e male with Trisomy 18 (Edwards syndrome) is 47,XX,+1 8

4.

Which of the following conclusions can be deduced from the pedigree shown
below?

a the proband was a female in whom the disease was present

b the proband's grandparents were consanguineous

c one of the proband's parents had died of the disease

d the proband was a monozygotic twin

e the disease is transmitted in an autosomal recessive pattern

5.

In X-linked dominant inheritance

a there is a 50% chance of an affected mother having an affected child

b affected children of an affected mother will all be female

c affected children of an affected father can be of either sex

d male to male transmission occurs Frequently

e an identical pedigree could be produced by an autosomally transmitted gene

6.

Given the marriage of two heterozygotes carrying the same gene transmitting an
autosomal recessive disorder

a all of their healthy children will carry the gene

b only male children will be affected

c each of their children has a 1 in 4 chance of being affected

d 75% of families with an only child will have a healthy child

e 1 in 16 of their grandchildren will be

affected

7.

in autosomal dominant inheritance

a affected individuals are usually heterozygotes

b affected individuals rarely have an affected parent

c male offspring are more likely to be affected than female

d unaffected children of an affected parent have a 50% chance of transmitting the

condition
e clinical disease is always found in genetically affected individuals

8.

In Down's syndrome

a non-disjunction of chromosome 21
producing trisomy 21 is the usual cause

b translocation accounts for 25% of those affected

c translocations often involve chromosomes 21 and 13,14 or 15

d the majority of siblings have chromosomal abnormalities

e the commonest chromosomal abnormality is polyploidy

9.

Characteristic features of Klinefelter's

syndrome include
a Fallot's tetralogy
b mental retardation
c short stature
d normal gonadotrophin levels
e gynaecomastia

10.

Characteristic features of Turner's

syndrome include
a primary amenorrhoea
b tall stature
c webbing of the neck
d cubitus valgus
e aortic coarctation

11.

Given a husband with haemophilia and

his unaffected wife
a none of their sons will be affected

b all of their daughters will carry the haemophilic gene

c a daughter with Turner's syndrome may

also have haernophilia

d all of his sisters will be carriers

e his maternal grandfather could have had

haernophilia
 12.

The following disorders are transmitted in an autosomal dominant mode

a phenylketonuria
b polyposis coli
c achondroplasia
d cystic fibrosis
e Marian's syndrome

13.

The following disorders are transmitted in an X-linked recessive mode

a vitamin D resistant rickets
b Christmas disease
c nephrogenic diabetes insipidus
d haemochromatosis
e Duchenne muscular dystrophy

14.

The following disorders are transmitted in an autosomal recessive mode

a albinism
b acute intermittent porphyria
c Friedreich's ataxia
d Wilson's disease
e Gilbert's syndrome

15.

The following disorders are caused by single gene disorders

a cleft lip
b sickle- cell anaemia
c Alzheimer's disease
d cystic fibrosis
e familial hypercholesterolaemia

16.
In man
a each of the 20 amino acids has only one
specific DNA triplet codon
b during transcription of DNA into RNA,
introns are excised
c translation of RNA occurs within the cell
nucleus
d 2-3% of babies have a genetically
attributable anomaly
e change of a single base pair of DNA can
produce clinically detectable disease

17.

The risk of a child developing congenital

pyloric stenosis is greater if
a the child is female rather than male

b the mother rather than the father had the disorder

c two siblings rather than one sibling had the disorder

d the mother is aged 40 than if she is aged 20

e a brother was severely affected rather than mildly affected

18.
In screening for genetic disorders

a congenital hypothyroidism is detected by measurement of neonatal thyroxine

b asymptomatic carriers of cystic fibrosis can now be identified

c the identification of homocystinuria is treated by dietary methionine restriction

d haemoglobin electrophoresis is useful in the detection of haemophilia A

e ophthalmoscopy is useful in screening the relatives of individuals with familial

polyposis coli

19.

Measurement of maternal alpha-

fetoprotein is
a mandatory in the management of
pregnancy
b an effective method of diagnosing fetal malformations prenatally
c measured at 12 weeks gestation
d elevated in neural tube defects of the fetus
e elevated in Down's syndrome

20.

The following conditions and genetic

markers have been associated with each
other
a ankylosing spondylitis and HLA B27
b peptic ulcer disease and blood group A
c atherosclerosis and apolipoprotein A-1
d insulin-dependent diabetes mellitus and
HLA B8
e Reiter's disease and HLA B27
21
In the laboratory analysis of DNA

a restriction enclonucleases are used to join small segments of

DNA

b gene probes must be single stranded to be of use in

hybridisation

c the polymerase chain reaction is used to amplify small

segments of genomic DNA

d restriction fragment length polymorphisms are useful in gene

tracking

e a low recombination fraction suggests that a gene and its

marker are closely linked

22.

The following genetic terms are defined

as follows

a dominant: a trait expressed in a heterozygote

b allele: alternative forms of a gene at a given locus

c proband: the person who first attracted medical attention to the

family

d penetrance: frequency of expression of a gene

e mosaic: cells of different genotype in a person

23.
Amniocentesis is

a usually performed around 16 weeks gestation

b best performed with ultrasound guidance

c associated with a higher fetal risk than chorionic villus
sampling

d a useful source of cytological material for genetic analysis

e helpful in the diagnosis of Duchenne muscular dystrophy