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Molecular Biology & Medical Genetics > Week 3 > Flashcards

Week 3 Flashcards

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1
Q

About 15% of SCID cases are caused by deficiency in an enzme that results in a toxic buildup of metabolites (Purines) which kill off B and T cells - what enzyme is this?

A

ADA

Adenosine Deaminase

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2
Q

In autosomal recessive Chronic Granulomatous Disease, which enzyme, critical for phagocytosis is missing?

A

NADPH oxidase

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3
Q

What are the two major Tumour Suppressor genes?

A
  • RB1*
  • TP53*
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4
Q

X-Linked Agammaglobulinaemia, a B-Cell disease, will result in a patient who lacks what?

A

All immunoglobulins

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5
Q

Genes that are considered syntetic are:

A

Found on the same chromosome

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6
Q

NPV (Negative predictive value) measures the ability to:

Detect the presence of a disease

or

Detect the absence of a disease

A

Detect the absence of a disease

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7
Q

Specificity of a medical test measures the ability to correctly identify:

True Positives

or

False Negatives

A

False Negatives

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8
Q

Exogenous antigens are presented by MHC proteins of class I or II?

A

Class II

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9
Q

Craniosyntosis is caused by mutation in which family of genes?

A

FGFR genes

<em>(Fibroblast Growth Factor)</em>

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10
Q

What does tetra-amelia mean?

A

Lack of all four limbs

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11
Q

IRT (Immunoreactive Trypsinogen) is the subject of a diagnostic test for what disease?

A

Cystic Fibrosis

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12
Q

In SCID, the patient is unable to adequately express MHC type II proteins, why does this leave the patient susceptable to all infections and viruses?

A

MHC type II proteins tag exogenous antigens

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13
Q

Mutation in what gene gives rise to the X-Linked Recessive disease Wiskott-Aldrich Syndrome?

A

WAS Gene

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14
Q

Why is the p53 protein (via TP53 gene) of intrest in tumour pathology?

A

p53 regulates apoptosis and cell cycle arrest

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15
Q

What immunodeficient disease is charachterised by deficient MHC class II expression?

A

Type II BLS

Bare Lymphocyte Syndrome

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16
Q

The mosaic distribution of overgrowth in Proteus Syndrome is caused by mutation in what gene?

A

AKT1

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17
Q

What type of mutations result in destruction of Hypocretin Neurons and resultant narcolepsy?

A

MHC class II

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18
Q

What are the three major categories of cancer-causing genes?

A

Tumour Suppresspor genes

Oncogenes

Genes that participate in DNA repair

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19
Q

A patient with Agammaglobulinaemia will have some degree of immunity for a short while after birth due to a temporary supply of which immunoglobulin from the mother?

A

IgG

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20
Q

Mutation in which BMP family gene causes fusion of the bones in various joints?

A

Noggin

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21
Q

Sensitivity of a medical test measures the ability to correctly identify:

True Positives

or

False Negatives

A

True Positives

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22
Q

Patient with adrenocortical Carcinoma or Choroid Plexus Tumour, Irrespective of family history

is one diagnostic criteria for what syndrome?

A

Li-Fraumeni Syndrome

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23
Q

In the autosomal recessive disease Galactosaemia, mutations in which gene will cause cataracts?

  • GALT*
  • GALK1*
  • GALE*
A

GALK1

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24
Q

An effective Diagnostic test is desirably of a high:

Sensitivity

or

Specificity

A

Specificity

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25
Q

The enzyme Activation Induced Deaminase is important for what process?

A

Somatic Hypermutation

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26
Q

Ineffective platelets, eczema and T-Cell abnormalities leading to susceptibility to opportunistic infections are a feature of which X-Linked Recessive disease?

A

Wiskott-Aldrich Syndrome

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27
Q

What theta value will two independantly assorting genes have?

A

0.5

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28
Q

On what chromosome is RB1, the retinoblastoma causing gene located?

A

13

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29
Q

Achondroplasia, the most common short-limbed dwarfism, is caused by mutations on chromosome 4, at location 4p16 - what gene is encoded there?

A

FGFR3

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30
Q

The hypothesis that most genes require two mutations to cause a phenotypic change is known as:

A

The Two-Hit model of carcinogenesis

or

The Knudson Hypothesis

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31
Q

The establisment of the trilaminar structure of embryonic development (Ectoderm, Endoderm, Mesoderm) is established in days 14-28 of gestation, what is this process referred to as?

A

Gastrulation

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32
Q

On which chromosome (and arm) will the genes encoding the Major Histocompatibility Complex be found?

A

Short arm, Chromosome 6

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33
Q

The WASP protein is required by erythrocytes in order to form cell-to-cell attachment - patients with Wiskott-Aldritch System will have what defect as a result?

A

Reduced ability to form blood clots

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34
Q

Reducing the distance between loci of syntetic genes will increase or decrease the recombination frequency?

A

Decrease

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35
Q

Which nucleotide base is changed to what, during the first stages of somatic hypermutation?

A

Cytosine to Uracil

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36
Q

Erythroblastosis Fetalis is a hemolytic disease resulting in spontaneous abortion of the fetus - what gene is responsible?

A

RH blood gene

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37
Q

What unit is used to measure the distance between loci of genes?

A

cM

Centimorgans

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38
Q

What is a Carcinoma?

A

Tumors of epithelial tissues

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39
Q

Mutations in CYP21A2 are associated with which disease?

A

Congenital Adrenal Hyperplasia

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40
Q

Curly wooly hair and a webbed neck are features of Noonan Syndrome - this is caused by mutation of what gene?

A

RAS-MAKP

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41
Q

What is the relatonship between 1 cM (centimorgan) and theta?

A

0.01 theta : 1 cM

42
Q

What is the medical term for tumours of the Haematopoietic Organs?

A

Leukaemias

43
Q

The Complement molecules of the immune system are coded by which class of Major Histocompatibility Complex?

A

Class III

44
Q

Somatic recombination in the production of immune cell receptors are combinations of which genes?

A

VDJ Genes

45
Q

Marfan syndrome is a result of mutation in which of the following gene products:

  • Fibrillin-1*
  • Elastin*
A

Fibrillin-1

46
Q

What is the medical term for an abnormal number of chromosomes within a cell?

A

Aneuploidy

47
Q

Thanatophoric Dysplasia, a severe skeletal malformation disease, is caused by mutation of which particular growth factor gene?

A

FGFR3

48
Q

Hirschprung disease is a common feature of birth defects such as Trisomy 21 and Waardenburg Syndrome - what causes Hirschprung Disease?

A

Lack of developement of the Enteric Nervous System

49
Q

What is the medical term for tumours of the connective tissues?

A

Sarcoma

50
Q

According to the two-hit (Knudson) theory, in order for a cell to initiate a tumour it must have:

A

Two damaged alleles

51
Q

Mutation in one of the four FGFR’s, FGFR3, causes what developmental disease?

A

Thanatophoric Dysplasia

52
Q

PPV (Positive predictive value) measures the ability to:

Detect the presence of a disease

or

Detect the absence of a disease

A

Detect the presence of a disease

53
Q

In the autosomal recessive disease Galactosaemia, mutations in which gene will cause the most common and severe form?

  • GALT*
  • GALK1*
  • GALE*
A

GALT

54
Q

What family of genes was named after the wingless fruit fly?

A

WNT genes

55
Q

An effective screening test is desirably of a high:

Sensitivity

or

Specificity

A

Sensitivity

56
Q

In what disease are the phagocytes able to take in bacteria and fingi, but unable to kill them?

A

CGD

Chronic Granulomatous Disease

57
Q

Regarding tumours, what does monoclonal mean?

A

Cells derived from a single ancestral cell

58
Q

Inherited Brachydactyly (short digits) results from what type of mutation of CDMP 1 genes?

Misense

or

Nonsense

A

Nonsense

59
Q

Amplification of DNA for cloning or analysis is done by a process of what name?

A

PCR

Polymerase Chain Reaction

60
Q

What is the medical term for tumours of the Lymphatic Tissues?

A

Lymphomas

61
Q

What is the role of SHH (sonic the Hedgehog) proteins in axial development?

A

Setting up left and right sides of the body

62
Q

Whatis the definition of Leukaemias?

A

Tumours of the haematopoietic organs

63
Q

What are the three steps of a PCR (Polymerase Chain Reaction) analysis?

A

Denaturation

Annealing

Extension

64
Q

What immunodeficient disease is charachterised by deficient MHC class I expression?

A

Type I BLS

<em>Bare Lymphocyte Syndrome</em>

65
Q

Somatic Hypermutation can occur in genes that encode T-Cell receptors.

True or False?

A

False

66
Q

X-Linked recessive and Autosomal Recessive Chronic Granulomatous Disease results in lesion most common in which are of the body?

A

The lungs

67
Q

Supravalvular Aortic Stenosis results from mutations in which of the following gene products?

  • Fibrillin-1*
  • Elastin*
A

Elastin

68
Q

Which of the following paracrine signalling molecules plays a role in axial development:

  • WNT* (wingless genes)
  • or*

Fibroblast Growth Factor

A

WNT

69
Q

What are Lymphomas?

A

Tumours of the lymphatic tissues

70
Q

how does the H1N1 vaccine Pandermix attack Hypocretin Neurons?

A

modified CD8 T-cells cross the blood-brain barrier.

71
Q

What will be the Theta value of two completely linked genes?

A

0

72
Q

Tumour cells derived from a single ancestral cell are known as:

A

Monoclonal cells

73
Q

What is the medical tem for tumours of the epithelial tissues?

A

Carcinoma

74
Q

What type of hypothalamic neurons are lost in Narcolepsy?

A

Hypocretin (Orexin) producing neurons

75
Q

By what mechanism does Cytomegalovirus avoid detection by cytotoxic T-Cells?

A

Downregulation of MHC class 1 Genes

76
Q

The autosomal Dominant disorders Holoprosencephaly and Grieg Cephalopolysyndactyly Syndrome, are caused by mutation of which protein signalling pathway?

A

(sonic) Hedgehog Signalling Pathway

77
Q

Rh blood disease causes what condition in unborn children?

A

Erythroblastosis Fetalis

78
Q

Which of the three classes of MHC is used in the function of T-Cell receptors of Cytotoxic T-Lymphocytes?

A

Class I

79
Q

Why does the second pregnancy from an Rh positive father usually result in erythroblastosis Fetalis, rather than the first?

A

The detachment of the placenta causes the Rh+ blood to enter the mother’s circulation

80
Q

NADPH Oxidase is the enzyme missing in which form of Chronic Granulomatous Disease, X-Linked or Autosomal Recessive?

A

Autosomal Recessive

81
Q

What is the name of the process by which ordered spatial arrangements of differeintiated cells create distinct tissues and organs in an organism?

A

Pattern Formation

82
Q

Using the Knudson Hypothesis, explain the earlier onset of Retinoblastoma in a child with an affected parent?

A

The inerited mutation has provided the ‘first hit’ already

83
Q

What is the inheritance risk of retinoblastoma if one parent is affected?

A

50%

84
Q

Mutations in the transcription factor encoded by TBX5 can lead to what syndrome?

A

Holt-Oram syndrome

85
Q

The limb development disorder Holt-Oram syndrome is caused by mutations in a gene encoding a transcription factor by what name?

A

TBX5

86
Q

Rostrocaudal symmetry of axial development is regulated by proteins expressed by what genes?

A

Sonic the Hedgehog Genes

SHH

87
Q

In X-Linked Chronic Granulomatous Disease, the patient does not produce a particular protein which is required by phagocytes in order to destroy the bacteria and fungi that they endocytose - what is this protein?

A

Cytochrome-B

88
Q

TAP2 Mutation is associated with which autosomal recessive disease?

A

Bare Lymphocyte Syndrome

89
Q

In the cellular immune response, by what mecanism are viral peptites brought to the cell surface to display and attract T-Cells?

A

MHC

90
Q

What is the medical term for a factor which has caused a mutation to take place?

A

Mutagen

91
Q

What are the four major families of Paracrine Signalling molecules?

A

Fibroblast Growth Factor

Hedgehog

Wingless

Transforming Growth Factor

Four Hedgehogs Walk Together

92
Q

Cancers that may be intergenerational are cancers of somatic cells or germline cells?

A

Germline cells

93
Q

What protein, when phosphorylated binds to E2F to arrest the cell cycle?

A

pRb

94
Q

What disease is also known as Bubble Boy disease?

A

SCID

95
Q

Endogenous antigens are presented by MHC proteins of class I or II?

A

Class I

96
Q

BRCA genes are associated with which type of cancer?

A

Breast cancer

97
Q

What are three forms of signals which instruct cells to stop growing in size?

A

Signalling Molecules

Contact Inhibition

Hayflick Number (Internal programmed limits)

98
Q

What is a Sarcoma?

A

Tumours of connective tissues

99
Q

Bacterial molecules that act as scissors to cleave foreign viral DNA in the cytosol that are useful in DNA analysis are known as:

A

Restriction Enzymes

100
Q

Ankylysing Spondylosis is a result of mutations in what gene?

(Gene and Locus)

A

MHC Class I - Locus B27

101
Q

A child who shows a white reflex (reflection) in the pupil of one eye in a flash-lit photograph is suspected to have what condition?

A

Retinoblastoma

Molecular Biology & Medical Genetics (5 decks)

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