Genetic Test Part 1 – MRCOG Goal

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Genetics Test (Part 1)

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1) The proportion of human pre-implantation embryos that show mosaicism is

A) Up to 1%

B) Up to 5%

C) Up to 8%

D) Up to 18%

E) Up to 50%

2) Which one is not an autosomal recessive condition?

A) Sickle cell disease

B) Cystic fibrosis

C) Phenylketonuria

D) Huntington’s disease

E) Adrenogenital syndrome

3) Tracheo-oesophageal fistula

A) Tracheo-oesophageal fistula

B) Duodenal atresia

C) Choroid plexus cysts

D) Gastroschisis

E) Exomphalos

4) A 23 year old woman has sickle cell disease. Her partner is a carrier of the condition. The chances of their baby being normal is

A) 1 in 2

B) 1 in 4

C) 3 in 4

D) 100%

E) 0%

A 23 year old woman has undergone chorionic villus sampling at 13 weeks gestation following a ‘high risk’ result from the
combined test. She should be informed that the results will be available

A) Within 24h

B) In 24-48h

C) n 48-72h

D) In 1-2 weeks

E) In 2-3 weeks

6) DNA replication

A) Occurs during transcription

B) Occurs during translation

C) Is semi-conservative

D) Occurs with the new DNA chain synthesized in the 3 prime to 5 prime direction

E) Requires separation of the double helix by DNA polymerase

7) Pre-implantation genetic diagnosis

A) Can be undertaken in women undergoing intrauterine insemination

B) Cannot be undertaken in women undergoing intracytoplasmic sperm injection (ICSI)

C) Requires biopsy of the embryo at the 2 or 4 cell stage

D) Requires biopsy of the embryo at the 6-10 cell stage

E) Requires biopsy of the embryo at the 16-32 cell stage

8) Myotonic dystrophy

A) Is characterized by proximal muscle weakness

B) Severity remains consistent from one generation to the next within a family

C) Is associated with unstable length mutation in the number of CTG repeats

D) Patients typically have difficulty clenching their fists

E) Is associated with red green colour blindness

9) Which one is not an autosomal recessive disorder?

A) Alpha-1-antitrypsin deficiency

B) Myotonic dystrophy

C) Congenital adrenal hyperplasia

D) Cystinuria

E) Cystic fibrosis

10) Karyotyping

A) Can be used to detect gene mutations

B) Cannot be used to identify chromosome translocations

C) Can be used in the pre-natal diagnosis of sickle cell disease

D) Can be used to identify gene deletions

E) Typically uses Giemsa staining

11)

A 23 year old woman has sickle cell disease. Her partner is a carrier of the condition. The chances of their baby having sickle cell disease
is

A) 1 in 2

B) 1 in 4

C) 3 in 4

D) 100%

E) 0%

12) Succinylcholine sensitivity

A) Is an autosomal dominant condition

B) Is an X-linked recessive condition

C) Is an X-linked dominant condition

D) Is an autosomal recessive condition

E) Typically presents at birth or within the first week of life

13) X-linked recessive conditions

A) Mainly affect females

B) Cannot be transmitted from men to their sons

C) Cannot be transmitted from women to their sons

D) Show a horizontal pedigree pattern

E) Show a vertical pedigree pattern

14) Congenital adrenal hyperplasia

A) Is an autosomal dominant disorder

B) Is due to 11-hydroxylase deficiency in the majority of cases

C) Affects 1 in 500 women in the UK

D) May present with neonatal vomiting and salt loss

E) Is rare amongst Yupik Eskimos

15) With respect to the structure of DNA

A) DNA contains the base uracil

B) Nucleotides contain a nitrogenous base

C) Nucleotides do not contain sugar molecules

D) Phosphate groups are found in RNA but not DNA

E) Bases are held together by 3-5-phosphodiester bonds

16) Down’s syndrome is associated with

A) Elevated maternal serum AFP levels

B) Elevated maternal unconjugated oestriol levels

C) Elevated maternal serum HCG levels

D) Elevated maternal serum progesterone levels

E) Low maternal serum placental growth factor levels

17) Cleavage stage embryo biopsy for pre-implantation genetic diagnosis

A) Is typically undertaken 7 days after fertilization

B) Is undertaken at the 32-64 cell stage

C) Requires drilling of the zona pellucida

D) Is facilitated by the addotion of calcium or magnesium to the culture medium

E) Typically occurs at the 2-4 cells stage

18) Fluorescent in-situ hybridization

A) Uses cells in metaphase

B) Uses fluorescently labeled gene-specific DNA sequences

C) Can only test for 3 chromosomes simultaneously

D) Can test for 46 chromosomes simultaneously

E) Cannot be used in Down’s syndrome screening programs

19) Quantitative fluorescent PCR (QF-PCR)

A) Can be used to determine the expression of specific proteins

B) Can be used to diagnose Down’s syndrome

C) Cannot be used to diagnose Turner’s syndrome

D) Relies on the amplification of RNA sequences

E) Relies on the amplification of RNA sequences

20) Mucopolysaccharidosis

A) Are a group of autosomal recessive disorders

B) Are a group of X-linked recessive disorders

C) Are a group of autosomal dominant disorders

D) Are a group of autosomal dominant and autosomal recessive disorders

E) Are a group of autosomal recessive and X-linked recessive disorders

21) Fluorescent in-situ hybridization

A) Uses cells in metaphase

B) Uses fluorescently labeled gene-specific DNA sequences

C) Can only test for 3 chromosomes simultaneously

D) Can test for 46 chromosomes simultaneously

E) Cannot be used in Down’s syndrome screening programs

22)

A 23 year old woman has undergone amniocentesis at 16 weeks gestation following a ‘high risk’ result from the quadruple test. She
should be informed that the results will be available

A) Within 24h

B) In 24-48h

C) In 48-72h

D) In 1-2 weeks

E) In 2-3 weeks

23) Which cells are not used for pre-implantation genetic diagnosis?

A) Polar body from oocyte

B) Polar body from zygote

C) Inner cell mass cells

D) Blastomeres from cleavage stage embryo

E) Trophectoderm cells

24) Which fetal tissue is not typically used for karyotyping?

A) Fetal lymphocytes

B) Fetal red blood cells

C) Amniocytes

D) Chorionic villus cells

E) Fetal skeletal muscle cells

25) Alport syndrome is associated with

A) Nephritis and sensori-neural deafness

B) Increased fragility of red blood cells

C) Proximal muscle weakness

D) Cherry-red macular spot

E) Androgen insensitivity

26) Non-dysjunction

A) Occurs during meiosis but does not occur during mitosis

B) Occurring during meiosis I results in the gamete receiving both homologues of the chromosome pair

C) Occurring in meiosis II results in the gamete receiving both homologues of the chromosome pair

D) Occurs during prophase

E) Accounts for 1-3% of cases of Down’s syndrome

27) Autosomal dominant conditions

A) Have a horizontal pedigree pattern

B) Are transmitted from male to female and from female to male

C) The offspring of an affected individual will either have the condition or be a carrier

D) The offspring of an affected individual have a 1 in 4 chance of having the condition

E) The offspring of an affected individual will either inherit the condition or be normal

28) Monozygotic twins

A) Are more common in West-Africans

B) Are associated with an increased risk of Down’s syndrome

C) Account for 1 in 80 pregnancies

D) Are always monochorionic

E) Are associated with an increased risk of congenital anomalies

29) During pre-implantation genetic diagnosis, allele drop-out can result in

A) Culture failure

B) DNA amplification failure

C) False positive diagnosis of Down’s syndrome

D) False positive diagnosis of for autosomal recessive condition

E) False negative diagnosis for an autosomal dominant condition

30) With respect to the structure of chromosomes

A) The short arm of chromosome is the q arm

B) Metacentric chromosomes have no centromere

C) Metacentric chromosomes to not contain histones c

D) Metacentric chromosomes to not contain histones

E) Acrocentric chromosomes do not have a centromere

31) Malignant hyperpyrexia

A) Is an X-linked recessive condition

B) Is characterized by a rise in body temperature triggered by exposure to certain antibiotics

C) Is characterized by muscle rigidity triggered by exposure to halothane

D) Is characterized by a massive rise in serum amylase concentration during crises

E) Is characterized by a rise in body temperature triggered by exposure to aspirin

32) The false positive rate of fluorescent in-situ hybridization is

A) 1 in 200

B) 1 in 400

C) 1 in 1000

D) 1 in 10,000

E) 1 in 30,000

33) The false positive rate of fluorescent in-situ hybridization is

A) 1 in 200

B) 1 in 400

C) 1 in 1000

D) 1 in 10,000

E) 1 in 30,000

34) With respect to the structure of DNA, which base pairing is correct?

A) U-T

B) A-T

C) G-T

D) G-A

E) U-G

35) Chromosome heteromorphism

A) Is greatest in the X chromosome

B) Is greatest in chromosome 21

C) Does not occur in humans

D) Only occurs in acrocentric chromosomes

E) Is greatest in the Y chromosome

36) Okazaki fragments

A) Are produced during RNA synthesis

B) Are joined by DNA ligase to produce a continuous DNA molecule

C) Are produced by DNA helicase

D) Are produced after enzyme digestion of DNA

E) Are produced after enzyme digestion of RNA

37) Pre-implantation genetic diagnosis

A) Is typically undertaken following conventional IVF

B) Usually requires intra-cytoplasmic sperm injection

C) Cannot be used to diagnose cystic fibrosis

D) Is associated with an increased risk of miscarriage

E) Is associated with an increased risk of congenital anomalies

38) Which material / cells are used for fluorescent in-situ hybridization?

A) Dividing (metaphase) cells

B) Non-dividing (interphase) cells

C) Extracted DNA

D) Extracted RNA

E) Extracted protein

39) Circumstances in which females can be affected by X-linked recessive conditions include

A) When their father is a carrier of the condition

B) The effect of variable penetrance

C) The effect of variable expressivity

D) The effect of atypical lyonisation

E) If the woman has an autosomal monosomy

40) Which disease is not an autosomal dominant condition?

A) Myotonic dystrophy

B) Hereditary spherocytosis

C) Alpha thalassaemia

D) Von Willebrand’s disease

E) Tuberous sclerosis

41) A 24 year old woman attends the antenatal clinic at 10 weeks gestation. She is known to have Von Willebrand’s disease.

A) There is a 1 in 2 chance that her offspring would inherit the disease

B) There is a 1 in 2 chance that her offspring would be a carrier of the disease

C) If she is carrying a male fetus, there is a 100% chance that he would inherit the disease

D) If she is carrying a female fetus, there is a 1 in 2 chance that she would be a carrier of the disease

E) Her partner should be tested for the disease

42) Fluorescent quantitative polymerase chain reaction (QF-PCR)

A) Amplifies RNA sequences followed by gel separation according to size

B) Amplifies RNA sequences and identifies them using a fluorescent probe

C) Amplifies DNA sequences and identifies them using a fluorescent probe

D) Amplifies DNA sequences and identifies them by gel separation according to size

E) Amplifies RNA sequences and identifies them based on mass : charge ratio

43) A 33 year old woman attends the antenatal clinic at 10 weeks gestation. She is a carrier of cystic fibrosis and her partner is also a carrier of cystic fibrosis.

A) All their children will either have cystic fibrosis or be carriers

B) There is a 1 in 2 chance that her offspring will have cystic fibrosis

C) There is a 3 in 4 chance that her offspring will not have cystic fibrosis

D) There is a 1 in 2 chance that her offspring will neither have the disease nor be a carrier

E) If the woman and her partner have different gene mutations then all their children will be unaffected

44) For karyotype to be undertaken from peripheral blood

A) Cell division is inhibited using antibiotics

B) Cell division is arrested in anaphase

C) Cell division is arrested in metaphase using colchicine

D) Cell division is arrested during telophase using colchicine

E) Cell division is arrested during prophase using colchicine

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