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MRCOG - PART 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Which chromosome contains the gene that codes for the alpha globin chain (a constituent component of haemoglobin)?

A

Chromosome 16

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2
Q

Chromosome replication happens in which phase

A

if not an option, choose Interphase which composed of (G1, S phase, G2)

S Phase

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3
Q

What are the acrocenteric Chromosomes?

A

13, 14, 15, 21, 22

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4
Q

Robertsonian Translocation

A

Chromosomal rearrangement involves fusion of long arms of 2 acrocentric chromosomes and loss of short arms.

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5
Q

most common robertsonian translocations?

A

rob (13q:14q) and rob (14q:21q)

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6
Q

Etiology of Down Syndrome

A
  1. 1ry Trisomy (non disjunction at meiosis) 95%
  2. Robertsonian Translocation 14:21 3%
  3. Mosaicism (1%)
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7
Q

Mortality rate of Patau Syndrome

A

100% by age of 1 month

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8
Q

Nuchal Translucency

A

sonographic appearance of subcutaneous fluid at the back of the fetal neck

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9
Q

When nuchal translucency is perfomed?

A

11 to 14 weeks of gestation

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10
Q

when to perform amniocentesis

A

after 15 weeks

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11
Q

when to perform chorionic villus sampling

A

after 11 weeks of gestation

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12
Q

when to perform cordocentesis

A

after 18 weeks of gestation
(with 1-2% risk of miscarriage)

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13
Q

Congenital malformations with raised Alpfa feto protein

A

Neural Tube Defect (Spina bifida)
Omphalocele
Bladder Exstrophy
Intestinal Atresia

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14
Q

Alfa feto protein levels in Down and Edward Syn.

A

Reduced

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15
Q

Omphalocele is associated with

A

Patau Syn (T13)

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16
Q

What percentage of first trimester miscarriages are thought to be attributed
to Turner Syndrome?

A

10-15%

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17
Q

Hirschsprung’s disease is most commonly associated with?

A

Down Syn (T21)

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18
Q

The five stages of mitosis in order are:

A

prophase, prometaphase, metaphase, anaphase, telophase

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19
Q

The structure that indicates that crossing-over has occurred is the

A

chiasmata

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20
Q

During oogenesis in humans, meiosis is blocked at which stage prior to ovulation?

A

diplontene stage of prophase 1

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21
Q

The theory that the Barr Body is an inactivated X-chromosome is

A

the Lyon hypothesis

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22
Q

If an affected male has all affected daughters but no affected sons, the trait is likely to be an

A

X-linked dominant trait

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23
Q

If an affected male has affected daughters and sons in about the same number as unaffected daughters and sons, the trait is likely to be an

A

autosomal dominant trait

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24
Q

What type of cell does mitosis create?

A

Diploid

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25
Q

During anaphase of Meiosis, the chromosomes fail to separate properly This causes there to be an uneven amount distributed to the resulting daughter cells. What is this called?

A

Non-disjunction

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26
Q

Sister chromatids are joined together by

A

Centromeres

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27
Q

What is the genetic transmission of Marfans disease

A

Autosomal dominant

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28
Q

What are the most common serum markers that comprise the triple test?

A

Beta human chorionic gonadotropin (beta hCG),
estriol
alpha-fetoprotein (AFP)

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29
Q

A 46XY karyotype associated with female phenotype is found in

A

Testicular feminization syndrome ( ANDROGEN INSENSITVITY)

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30
Q

A baby with Down’s syndrome ,the probability of extra chromosome 21 being maternal in origin is ?

A

80-85%

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31
Q

Which error in meiosis is the most common cause of Down syndrome?

A

Non-disjunction

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32
Q

What screening test has the highest detection rate for Down syndrome?

A

Stepwise sequential screening (Combined Test)

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33
Q

which is the most commonly describe inborn errors of metabolism that are diagnosable in utero?

A

Autosomal recessive disorders

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34
Q

Approximately what percentage of spontaneous first trimester abortions show chromosomal abnormalities?

A

50%

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35
Q

Which cells are typically used for pre-implantation genetic diagnosis?

A

Polar body from zygote

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36
Q

What disease is caused by a chromosome 5p deletion ?

A

Cri-du-chat syndrome

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37
Q

V’ Shaped chromosomes are?

A

Telocentric

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38
Q

What effect does Down syndrome have on the quadruple test?

A

AFP: reduced
uE3: reduced
bhCG: elevated
Inhibin A: elevated

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39
Q

Which enzyme deficiency may be associated with a female pt with karyotype 46XY?

A

5-alpha-reductase deficiency

40
Q

The process by which mRNA is made from DNA is?

A

Transcription

41
Q

What role does messenger RNA play in the synthesis of proteins?

A

Translation

42
Q

What is the inheritance of sickle cell disease(SCD)?

A

autosomal recessive

43
Q

The results of haemoglobin electrophoresis in a woman with sickle cell trait is

A

Haemoglobin A and haemoglobin S

44
Q

Sickle cell disease is caused by

A

A mutation in the beta globin gene

45
Q

With regard to the cell cycle. In what phase do nuclear envelopes form around daughter chromosomes?

A

Telophase

46
Q

How many telomere are in the cell in metaphase of mitosis ?

A

4

47
Q

Cell spends most of its time in which phase?

A

Interphase

48
Q

What is the main infertility rate in cystic fibrosis patients?

A

98%

49
Q

Male infertility in a patient with cystic fibrosis is most likely due to which condition?

A

Congenital absence of vas deference

50
Q

male who has presented in infertility clinic with hypogonadism & Anosmia

A

kallman syndrome

51
Q

Earliest most appropriate gestational age for chorionic villous sampling CVS to be done is.

A

11 weeks

52
Q

The standard for convenQonal cytogeneQc analysis of human chromosomes is

A

G banding

53
Q

Whenever the intestinal midgut loop fails to return from the umbilical cord into the abdominal cavity, the defect is known as

A

Omphalocele (exomphalos)

54
Q

HbS rate in sickle cell trait

A

The usual partition of Hb A and Hb S in sickle cell trait is 60 : 40

55
Q

Which one of the following stages of the cell cycle is cell prepared for DNA synthesis?

A

Gap phase 1 (G1)

56
Q

Which one of the following stages of the cell cycle is preceded by mitosis?

A

Gap phase 2 (G2)

57
Q

Which types of cells are phagocytic for residual bodies left over from the process of spermiogenesis

A

Sertoli cells

58
Q

In which syndrome would a single barr body be found

A

Klienfilter syndrome

59
Q

Malignant hyperthermia is recognized complication with the use of which drug

A

Suxamethonium

60
Q

Which oncogen is associated with the development of breast cancer

A

HER-2

61
Q

What is the action of restriction endonuclease

A

Bacterial enzyme which cleaves foreign DNA at a specific recognition site

62
Q

What is the action of reverse transcriptase

A

Enzyme producing cDNA

63
Q

What is the action of RNA Polymerase

A

Enzyme responsible for DNA transcription

64
Q

What is the action of DNA polymerase

A

Enzyme responsible for DNA replication

65
Q

What malignancy is associated with a defect in DNA gyrase

A

Xeroderma pigmentoza

66
Q

What type of inheritance is Familial adenomatous polyposis

A

Autosomal Dominant

67
Q

What is a commonest intra-abdominal childhood malignancy of primitive tubules and mesenchymal cells

A

Wilm’s tumor

68
Q

In which type of malignancy are tumor suppressor genes MLH1 & MSH2 are found

A

Hereditary non polyposis colonic carcinoma
(Lynch syndrome)

69
Q

What type of inheritance of retinoblastoma

A

Autosomal Dominant

70
Q

What type of inheritance of cystic fibrosis

A

Autosomal recessive

71
Q

Patau syndrome is associated with

A

Omphalocele
Holoprosencephaly
Polydactyly

72
Q

What chromosomal abnormality has an association with severely impaired semen quality

A

Microdeletion of the Y chromosome

73
Q

Von willberand inherited as

A

Autosomal dominant

74
Q

Hungtons chorea inherited as

A

Autosomal dominant

75
Q

Duchenne muscular dystrophy inherited as

A

X linked recessive

76
Q

How many genes included in mitochondrial DNA

A

37 genes

77
Q

What percentage of down syndrome occur due to robertsonian translocation

A

3%

78
Q

Phenylketonuria is inherited as

A

Autosomal recessive

79
Q

At the end of which phase of the cell cycle control mutation of genes

A

G1

80
Q

In which part of the cycle do Chromatids form?

A

S phase

81
Q

Ash leaf spots, butterfly rash, Shagreen patches are features of?

A

Tuberous sclerosis

82
Q

Life time risk of developing cancer of BRCA 2

A

Ovarian 15%
Breast 45%

83
Q

lifetime risk of breast cancer by mutated BRCA gene

A

12%

84
Q

Chromosome abnormal in beta and delta thalassemia?

A

Chromosome 11

85
Q

What type of inheritance pattern does Red Green Colour blindness follow

A

X-linked recessive

86
Q

Which condition is caused by a chromosome micro deletion?

A

Cri‐du chat is a syndrome caused by micro deletion of chromosome 5
Like

87
Q

Infantile Polycystic Kidney Disease is inherited as

A

autosomal recessive

88
Q

Osteogenesis Imperfecta is inherited as

A

Autosomal dominant

89
Q

What is the inheritance pattern of HNPCC (Lynch syndrome)?

A

Autosomal Dominant

90
Q

What is the mode of inheritance of beta Thalassemia?

A

Autosomal recessive

91
Q

Which fetal tissue is not typically used for karyotyping?

A

Fetal red blood cells

92
Q

What percentage of fetuses with trisomy 21 detected by nuchal translucency scan alone?

A

10%

93
Q

Possible number of codons?

A

64

94
Q

risk of miscarriage following amniocentesis?

A

1%

95
Q

Cytosine pairs with

A

Guanine

MRCOG - PART 1 (15 decks)

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