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Final Flashcards

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1
Q

Which sampling method will provide earlier analysis of foetal DNA:

Chorionic Villus Sampling

or

Amniocentesis?

A

Chorionic Villus Sampling

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2
Q

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

  • GALT*
  • GALK1*
  • GALE*
A

GALK1

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3
Q

Ankylysing Spondylosis is a result of mutations in what gene?

(Gene and Locus)

A

MHC Class I - Locus B27

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4
Q

Which Cyclin Dependant Kinase inactivates the ORC (Origin Recognition Complex)?

A

S-Cdk

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5
Q

Chromosomes of what morphology may be subject to Robertsonian Translocation?

A

Acrocentric

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6
Q

Traits occuring in only one sex due to anatomical differences are classified as:

Sex-limited Traits,

or

Sex-Influenced Traits?

A

Sex-Limited Traits

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7
Q

Where is the site of original de-novo mutation in Germline Mosaicism?

A

The embryo

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8
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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9
Q

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

  • GALT*
  • GALK1*
  • GALE*
A

GALT

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10
Q

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

A

(sonic) Hedgehog Signalling Pathway

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11
Q

Behaviour of Enhancer and Silencer regions of DNA during transcription are regulated by:

A

What type of cell the DNA is located in

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12
Q

A nucleocapsid consists of what two materials?

A

Capsid Protein

Genetic material (DNA or RNA)

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13
Q

Genetic conditions such as Marfan’s Syndrome with a spectrum of mild to severe features is conisdered to have:

A

Variable Expressivity

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14
Q

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

A

NADPH oxidase

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15
Q

What process is required to trigger the degradation of M-Cyclin after mitosis?

A

Ubiquitination

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16
Q

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

A

Type II BLS

Bare Lymphocyte Syndrome

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17
Q

Ribosomal subunits of 40S and 60S are associated with prokaryotes or eukaryotes?

A

Eukaryotes

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18
Q

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

A

FGFR3

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19
Q

Bacteria which have mutated to resist antibiotic drugs will eventually become the majority of the population of that particular bacteria - is this horizontal or vertical resistance gene transfer?

A

Vertical

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20
Q

Swyer Syndrome results from an error in the SRY / SOX9 crossover process, does this result in an XX Male, or an XY Female?

A

XY Female

Also Known as XY Gonadal Dysgenesis

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21
Q

in MILS (Maternally-inherited Leigh Syndrome) what is encoded by the affected gene, MT-ATP6?

A

ATP synthase

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22
Q

What is the typical recurrence risk for an Autosomal Recessive disease?

A

25%

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23
Q

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

A

Denaturation

Annealing

Extension

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24
Q

What are the three forms of Tay-Sachs disease?

A

Infantile

Juvenile

Adult/Late

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25
Q

Does genetic testing reveal mutations, or the presence of disease?

A

Mutations

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26
Q

What are the molecules which toggle DNA replication and cell division activities?

A

Cyclins

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27
Q

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

  • WNT* (wingless genes)
  • or*

Fibroblast Growth Factor

A

WNT

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28
Q

The enzyme Activation Induced Deaminase is important for what process?

A

Somatic Hypermutation

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29
Q

Double stranded DNA is the mechanism of gene therapy in:

Adeno-Associated Vector

or

Adenovirus Vector?

A

Adenovirus vectors

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30
Q

RNA is probed by Northern or Southern blotting?

A

Northern

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31
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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32
Q

Non-ionising radiation may have the following effect on DNA:

Single or double stranded breaks in DNA backbones

or

Binding of adjacent Thymine bases to one another

A

Binding of adjacent Thymine bases to one another

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33
Q

DNA Polymorphisms such as SNPs or STRs can be used as markers in what type of diagnostic tests?

A

Linkage Analysis

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34
Q

S-Cdk causes the inactivation of ORC by destruction of Cdc6, why?

A

To prevent re-replication

<em>(DNA is replicated ONCE during the cell cycle)</em>

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35
Q

What type of newborn screening test is used to detect protein variants that signal amino acid disorders?

A

Tandem Mass Spectrometry

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36
Q

The two structures of viral genomes, Circular and Linear, are both further broken down in what two classifications?

A

Segmented

Non-Segmented

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37
Q

In the Hardy-Weinberg Law formula: p2 + 2pq + q2 = 1 , what does the 2pq represent in terms of alleles?

A

Frequency of the Aa combination

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38
Q

In a dominant gene disease, which allele is pathogenic, d or D?

A

D

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39
Q

Cri-du-chat Syndrome is a resut of a deletion or a translocation of chromosome 5?

A

Deleted

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40
Q

Which of the following virii are able to be used directly as mRNA for protein synthesis?

ssRNA (+)

ssRNA (-)

A

ssRNA (+)

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41
Q

Are proteins encoded by rRNA?

A

no

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42
Q

What enzyme joins Okazaki fragments along the lagging strand together to form a complete strand (parallel to the parent?)

A

DNA Ligase

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43
Q

What is the name of the deactivated X chromosomes in the cells of women?

A

Barr bodies

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44
Q

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

A

Downregulation of MHC class 1 Genes

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45
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

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46
Q

A male inheriting an X-Linked dominant disease would have gained the allele from the mother or the father?

A

Mother

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47
Q

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

A

Mutagen

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48
Q

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

A

Class III

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49
Q

In X-Linked Recessive diseases, why is maternal transmission of disease always expressed in sons?

A

Males do not have a compensatory allele for the affected X-Chromosome gene

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50
Q

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

A

Carcinoma

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51
Q

Ribosomal subunits of 50S and 30S are associated with prokaryotes, or eukaryotes?

A

Prokaryotes

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52
Q

Hereditary non-polyposis colon cancer is also known as:

A

Leisch Nyhan syndrome

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53
Q

DNA is read in the 3’ ⇒ 5’ direction, hence DNA is synthesised in the:

A

5’ ⇒ 3’ direction

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54
Q

The Prader-Willi gene on chromosome 15 is active, or inactive in maternal chromosomes?

A

Inactive

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55
Q

What is the phenomenon that describes defective genes in different chromosomes causing the same disease?

A

Locus Heterogeneity

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56
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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57
Q

An effective screening test is desirably of a high:

Sensitivity

or

Specificity

A

Sensitivity

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58
Q

The probability of a child having a genetically inherited disease is proportional to the number of siblings they have.

True

or

False?

A

False.

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59
Q

Two non-homologous acrocentric chromosomes loose their short arms (P), and the residual long arms (Q) fuse to form one long chromosome - what is this phenomenon refererred to as?

A

Robertsonian Translocation

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60
Q

Sensitivity is given as a function of true positives, divided by:

A

True positives + False Negatives

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61
Q

25% of cases of Prader-Willi syndrome are caused by uniparental disomy of chromosome 15 - what does this mean?

A

The child inherits both copies of Chromosome 15 from the same parent

(Maternal in this case)

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62
Q

HOX genes clusters consist of normal genes, and what?

A

Pseudogenes

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63
Q

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

  • Fibrillin-1*
  • Elastin*
A

Elastin

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64
Q

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

A

Aneuploidy

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65
Q

What is Pleitropy?

A

single genes having more than one discernible effect on the body

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66
Q

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

A

0

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67
Q

What is the purpose of maintenance methylation?

A

methylating newly synthesised strands of DNA

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68
Q

Gene therapy with antisense oligonucleotides corrects for what type of mutations?

A

Gain of function mutations

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69
Q

Proteins are the subject of:

Southern Blotting

Western Blotting

Northern Blotting?

A

Western Blotting

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70
Q

Sickle Cell disease

Tay-Sachs disease

Cystic Fibrosis

Phenylketonuria

These disease are detected by what type of screening?

A

Heterozygote screening

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71
Q

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

A

Cystic Fibrosis

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72
Q

A needle passed through the abdomen to collect samples for analysis

describes:

Chorionic Villus Sampling

or

Amniocentesis

A

Amniocentesis

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73
Q

The carbon ring in a nucleotide contains 4 or 5 Carbons?

A

4 Carbons

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74
Q

When calculating the frequency of alleles, the number (n) of homozygous (AA) or heterozygous (Aa) samples must be doubled before dividing by 2N?

A

Homozygous (AA)

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75
Q

What is the most straightforward method of epigenetic control?

A

DNA Methylation

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76
Q

During conjucation by bacteria, genetic material travelling through the sex pilus originates from the:

Bacterial Chromosome

or

a Plasmid?

A

Plasmid

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77
Q

The subunit formed by DNA wrapped around eight histones is known as a:

A

Nucleosome

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78
Q

If some people with a mutation of a gene do not develop the features of the disorder, the condition is said to have:

A

A reduced penetrance

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79
Q

What is the typical recurrence risk of an autosomal recessive disease?

A

25%

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80
Q

During methylation, which enzyme adds the first methyl group?

de novo methylase

or

Maintenance methylase

A

de novo methylase

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81
Q

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

A

Sonic the Hedgehog Genes

SHH

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82
Q

Myotonic Dystrophy is an autosomal dominant, or recessive disease?

A

Autosomal Dominant

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83
Q

Continuation of the leading strand of DNA is done by which Polymerase?

A

DNA Polymerase Epsilon

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84
Q

Exonucleases perform what function?

A

Error checking and correction

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85
Q

What component of the Helicase (MCM) is destroyed by S-Cdk?

A

Cdc6

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86
Q

Resistance gene transfer that is achieved by absorption of new DNA from the external environment is an example of:

  • Conjugation*
  • Transduction*
  • Transformation*?
A

Transformation

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87
Q

In mitochondrial replacement therapy, in which method is repair carried out before fertilisation?

Pronuclear Transfer

Maternal Spindle Transfer

A

Maternal Spindle Transfer

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88
Q

A section of DNA incorporated in to the bacterial chromosome by a virus is known as a:

A

Prophage

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89
Q

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

A

CGD

Chronic Granulomatous Disease

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90
Q

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

Misense

or

Nonsense

A

Nonsense

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91
Q

Transduction of non-dividing cells in gene therapy requires what vector?

A

Adeno-associated virus

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92
Q

Which feature of a DNA strand encodes proteins?

Exons

or

Introns?

A

Exons

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93
Q

Which genetic disease is linked to eating fava beans and some oxidative drugs?

A

G6PD deficiency

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94
Q

What is the diploid number for human somatic cells?

A

23

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95
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

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96
Q

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

A

Noggin

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97
Q

The person about who’s future offspring the genetic analysis refers, is known as:

A

The consultand

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98
Q

What is the purpose of Alternative Splicing in protein synthesis?

A

Allowing for multiple RNA/Proteins to be produced from the same set of exons.

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99
Q

What are the two forms of Huntington’s Disease?

A

Adult Onset

Juvenile Onset

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100
Q

What are Lymphomas?

A

Tumours of the lymphatic tissues

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101
Q

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

A

50%

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102
Q

With relation to chromosome 15, by what three mechanisms will a patient develop either Prader-Willi Syndrome or Angelman Syndrome?

A

Uniparental disomy

Defective imprinting

Deletion

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103
Q

Adenine and Guanine are:

Purines

or

Pyramidines?

A

Purines

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104
Q

A law states* that genotype and allele frequencies will always remain constant from generation to generation - what is this law?

*provided certain criteria are met

A

Hardy-Weinberg Law

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105
Q

What disease is also known as Bubble Boy disease?

A

SCID

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106
Q

What is a Sarcoma?

A

Tumours of connective tissues

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107
Q

What sequences upstream from the gene promoter site function to regulate DNA transcription to RNA?

A

Enhancers and Silencers

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108
Q

Is Male Pattern Baldness a Sex-Limited trait, or a Sex-Influenced trait?

A

Sex-Influenced Trait

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109
Q

Mutations in CYP21A2 are associated with which disease?

A

Congenital Adrenal Hyperplasia

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110
Q

What are the three types of horizontal resistance gene transfer in bacteria?

A

Transformation

Conjugation

Transduction

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111
Q

Genetic material, combined with Capsid Protein is known as a:

A

Nucleocapsid

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112
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

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113
Q

What are the two morphological structures of viral genomes?

A

Linear

Circular

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114
Q

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

A

Decrease

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115
Q

Pairs of sister chromatids are joined by a special DNA sequence known as a:

A

Centromere

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116
Q

What does Haplosufficient mean?

A

Accounting for any mutation, there are sufficient proteins produced to maintain homeostatic function

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117
Q

The Angelman Syndrome gene on chromosome 15 is active, or inactive in maternal chromosomes?

A

Active

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118
Q

Father to son transmission of genetic disease is an attribute of Autosomal Dominant, or Autosomal Recessive?

A

Autosomal Dominant

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119
Q

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

A

Two damaged alleles

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120
Q

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

True Positives

or

False Negatives

A

False Negatives

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121
Q

Is mitochondrial inheritance maternal, or paternal?

A

Maternal

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122
Q

What are the three classes of prenatal diagnosis of genetic disorders?

A

Invasive Diagnostic Testing

Foetal Visualisation Techniques

Population Screening

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123
Q

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

A

All immunoglobulins

124
Q

X linked dominant diseases passed down from the mother are seen in boys, girls, or both?

A

Both

125
Q

What is the mechanism of muscle wastage in Pompe disease?

A

Lysosomes are unable to break down glycogen

Swollen lysosomes disrupt muscle cell function

126
Q

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

A

WAS Gene

127
Q

What is the function of Operons?

A

Regulating gene expression in prokaryotes

128
Q

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

A

Thanatophoric Dysplasia

129
Q

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

A

Holt-Oram syndrome

130
Q

DNA molecules are antiparallel, meaning DNA is:

_____ in the 3’ ⇒ 5’ direction,

_____ in the 5’ ⇒ 3’ direction.

A

Read in the 3’ ⇒ 5’ direction,

Written in the 5’ ⇒ 3’ direction.

131
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

132
Q

A disorder affecting chromosome 11 causes downregulation of growth factor, is this disease:

Beckwith-Weidemann Syndrome

or

Silver-Russel Syndrome?

A

Silver-Russel Syndrome

133
Q

Craniosyntosis is caused by mutation in which family of genes?

A

FGFR genes

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

134
Q

In a recessive gene disease, which allele is pathogenic, d or D?

A

d

135
Q

A new gene formed at the interface between two translocated chromosome is known as:

A

An Oncogene

136
Q

TAP2 Mutation is associated with which autosomal recessive disease?

A

Bare Lymphocyte Syndrome

137
Q

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

A

WNT genes

138
Q

De novo methylase adds methyl (CH3) groups to what locations on the DNA molecule?

A

CG Islands

139
Q

“Common in Africans, African Americans and Mediterranian peoples.”

Is this a feature of Sickle Cell anaemia, or Tay Sachs disease?

A

Sickle Cell anaemia

140
Q

how many generations are required to be examined to qualify a ‘complete’ history, regarding genetic disease?

A

Three

141
Q

The Angelman Syndrome gene on chromosome 15 is active, or inactive in paternal chromosomes?

A

Inactive

142
Q

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

A

Leukaemias

143
Q

What is the typical recurrence risk for an Autosomal Dominant disease?

A

50%

144
Q

The Parental DNA strand is the Sense or Antisense strand?

A

Antisense

145
Q

Chromosomes are synthesised during G1 phase of the cell cycle.

True or False?

A

False

146
Q

During the first stage of gene silencing, what molecule is attracted to the methylated CG-Islands?

A

Methylcytosine-binding protein (MeCP)

147
Q

Why do females display a lower severity of symptoms in Fragile X Syndrome than males?

A

Females have two copies of the X chromosome, one may be a normal copy

(Females are mosaic)

148
Q

The Hayflick Limit refers to what aspect of DNA replication?

A

Shortening of Telomeres, as DNA strands must be built in the 5’ ⇒ 3’ direction

149
Q

The probability that the child of a patient may inherit a particular disease is known as:

A

Recurrence Risk

150
Q

What is a synonym for Helicase?

A

MCM

151
Q

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

A

Class I

152
Q

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

A

0.01 theta : 1 cM

153
Q

De La Chapelle Syndrome results from an error in the SRY / SOX9 crossover process - Does this result in an XX Male, or an XY Female?

A

XX Male

154
Q

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

A

Cytosine to Uracil

155
Q

Why will uniparental disomy of chromosome 15 cause either Prader-Willi or Angelman Syndrome?

A

Active and Inactive PWS and AS regions are sex-dependant

(Maternal or Paternal)

156
Q

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

A

The lungs

157
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

158
Q

during the second stage of gene silencing, Histone Deacetylase (HDAC) binds to both:

A

MeCP and DNA

159
Q

Are nucleotide sequences retained in non-homologous end joining (NHEJ) repair?

A

No

160
Q

On which chromosome is the locus of the genes involved in IGHD Dwarfism?

A

17

161
Q

What molecule must first bind with the Ori to initiate the assembly of the MCM (Helicase)?

A

ORC

Ori Recognition Complex

162
Q

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

A

TBX5

163
Q

List the five Nitrogenous Bases:

A

Guanine

Cytosine

Adenine

Thymine

Uracil

164
Q

is X-Linked Dominant disease transmission possible between fathers and sons?

A

No

165
Q

Drug resistance gene transfer that is carried out through cell division is an example of vertical or horizontal gene transfer?

A

vertical

166
Q

What are the two methods of mitochondrial replacement therapy?

A

Pronuclear Transfer

Maternal Spindle Transfer

167
Q

On what chromosome is the gene GAA encoded, which is responsible for the lysosomal breakdown of glycogen in muscle cells?

A

17

168
Q

A mutation in a trinucleotide results in the replacement of Leucine with Proline - is this a nonsense or a missense mutation?

A

Missense mutation

169
Q

Robertsonian Translocation occurs between two Homologous or Non-Homologous pairs of chromosomes?

A

Non-homologous

170
Q

Are mitochondrial diseases inherited from the mother, father, or either parent?

A

Mother

171
Q

is Methylcytosine-binding protein (MeCP) the first or second molecule used in gene silencing?

A

First

172
Q

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

A

Class II

173
Q

Rh blood disease causes what condition in unborn children?

A

Erythroblastosis Fetalis

174
Q

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

True or False?

A

False

175
Q

BRCA genes are associated with which type of cancer?

A

Breast cancer

176
Q

Xeroderma Pigmentosum is a disease caused by mutations in genes encoding what proteins?

A

Nucleotide Excision Repair enzymes

177
Q

What aspect of pedigree should be considered when a rare recessive disease is discovered?

A

Cosanguinity

178
Q

M-Cyclin begins accumulating during which phase of the cell cycle?

A

G2

179
Q

What enzyme makes retroviruses unique?

A

DNA Reverse Transcriptase

180
Q

What are the two major Tumour Suppressor genes?

A
  • RB1*
  • TP53*
181
Q

What is the most important factor in calculating recurrence risk?

A

How the disease is inherited

182
Q

What Physical phenomenon is responsible for Hydrophobic and Hydrophlic interactions in the tertiary structure of proteins?

A

Van Der Waal’s forces

183
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

184
Q

Chronic Myelogenous Leukaemia results from translocation of most of chromosome 22 on to the long arm of chromosome 9 in haematopoetic stem cells, what is this new hybrid chromosome known as?

A

The Philadelphia Chromosome

185
Q

How many individual chromosomes are found in a cell during S phase?

A

96

186
Q

What is the purpose of the methylated CG-Islands in DNA methylation?

A

Interfering with DNA transcriptase activity

187
Q

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

A

MHC class II

188
Q

Anticipation of genetic disease (Progresive worsening between generations) is caused by what?

A

Trinucleotide Repeat Expansion mutation

189
Q

An effective Diagnostic test is desirably of a high:

Sensitivity

or

Specificity

A

Specificity

190
Q

IRT, Immunoreactive Trypsinogen, is the subject of a diagnostic test for what genetic disease?

A

CF

Cystic Fibrosis

191
Q

Which sugar component of DNA and RNA is rich in oxygen?

A

RNA

192
Q

Prior to AP Endonuclease and Phosphodiesterase removing a sugar molecule from DNA during repair, what enzyme must first act on the site of a nucleotide mismatch?

A

DNA Glycosylase

193
Q

What is the point on a chromosome where replication starts known as?

A

Ori

194
Q

What is the purpose of Polysomes?

A

allowing multiple proteins to be produced from the same mRNA simultaneously

195
Q

DNA Ligase is required to complete strands created by:

DNA Polymerase ε

or

DNA Polymerase δ

A

DNA Polymerase δ

196
Q

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

A

13

197
Q

5’ Caps and Poly-A tails are features of Prokaryotic or Eukaryotic mRNA?

A

Eukaryotic mRNA

198
Q

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

A

VDJ Genes

199
Q

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

A

Monoclonal cells

200
Q

Which complex of the electron transport chain does not utilise mitochondrial DNA for its synthesis?

A

Complex II

201
Q

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

A

cM

Centimorgans

202
Q

How many of the parents must be carriers of the defective gene in order for one of their offspring to express an autosomal recessive disease?

A

Both

203
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

204
Q

What substrate must accumulate in the cytoplasm in order for mitosis to be triggered by cyclin-dependant kinase (Cdk)?

A

M-Cyclin

205
Q

What theta value will two independantly assorting genes have?

A

0.5

206
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

207
Q

Which amino acids are unable to be metabolised in maple syrup urine disease?

A

Leucine, Isoleucine, Valine

208
Q

The Ori of chromosomes are rich in AT pairs, why?

A

Two H-bonds (as opposed to 3 in CG)

209
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

210
Q

What is the most common single-gene mutation disorder of carbohydrate metabolism?

A

Galactosaemia

211
Q

Maternal foetal protein will peak lower than the normal value in a test indicative of:

Down Syndrome or Open Spina-Bifida?

A

Down Syndrome

212
Q

What does LINEs stand for in DNA types?

A

Long Interspersed Elements

213
Q

Whatis the definition of Leukaemias?

A

Tumours of the haematopoietic organs

214
Q

“Common in Ashkenazi Jews and French Canadian peoples.”

Is this a feature of Sickle Cell anaemia, or Tay Sachs disease?

A

Tay Sachs Disease

215
Q

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

A

AKT1

216
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

217
Q

Both alleles affecting the phenotype are a feature of what type of inheritance?

A

Codominant Inheritance

218
Q

DNA is probed by Northern or Southern blotting?

A

Southern

219
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

220
Q

In the Hardy-Weinberg Law formula: p2 + 2pq + q2 = 1 , what does the p2 represent in terms of alleles?

A

Frequency of AA

221
Q

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

A

Setting up left and right sides of the body

222
Q

What is the function of Xist RNA?

A

Inactivation of X Chromosomes

223
Q

Defective duplicate genes found in eukaryotic cells are known as:

A

Pseudogenes

224
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)

225
Q

Females are considered genetic mosaics with regard to X-Linked genetic traits - what does this mean?

A

She will express X-linked alleles from both her mother and her father

226
Q

Virii are Obligate Parasites - what does this mean?

A

They require the use of host machinery to reproduce

227
Q

Regarding tumours, what does monoclonal mean?

A

Cells derived from a single ancestral cell

228
Q

What type of genes regulate axial development of the embryo?

A

HOX gene clusters

229
Q

What sequence precedes an exon along a DNA strand?

A

Promoter region

<em>(Includes the TATA box)</em>

230
Q

The template strand is the sense or antisense strand?

A

Sense strand

231
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

232
Q

Tay Sachs Disease:

Autosomal Dominant, or Recessive?

A

Autosomal Recessive

233
Q

What does tetra-amelia mean?

A

Lack of all four limbs

234
Q

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

A

Short arm, Chromosome 6

235
Q

A disorder affecting chromosome 11 causes upregulation of growth factor, is this disease:

Beckwith-Weidemann Syndrome

or

Silver-Russel Syndrome?

A

Beckwith-Weidemann Syndrome

236
Q

Robertsonian Translocation occurs during:

Gametogenesis

or

Embryonic Cell Division?

A

Gametogenesis

237
Q

Resistance gene transfer that is achieved by introduction of new DNA by Bacteriophage (Virii) is an example of:

  • Conjugation*
  • Transduction*
  • Transformation*?
A

Transduction

238
Q

At the present time, what are the only targets of Gene Therapy?

A

Somatic Cells

239
Q

Albinism:

Autosomal dominant, or recessive?

A

Autosomal Recessive

240
Q

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

A

pRb

241
Q

Three hydrogen bonds wil be found between which two Nitrogenous Bases?

A

Cytosine and Guanine

242
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

243
Q

List four types of invasive prenatal diagnostic methods for genetic disorders:

A

Amniocentesis

Chorionic Villus Sampling

Percutaneous Umbilical blood sampling

Preimplantation Genetic Diagnosis

244
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

245
Q

During which phase of the cell cycle does G1/S-Cyclin activity peak?

A

G1

246
Q

Ionising radiation may have the following effect on DNA:

Single or double stranded breaks in DNA backbones

or

Binding of adjacent Thymine bases to one another

A

Single or double stranded breaks in DNA backbones

247
Q

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

A

Lymphomas

248
Q

What is unique about Introns found in LINEs?

(Long Interspersed Elements)

A

A coding sequence

249
Q

NIPS, Non-invasive Prenatal Screening, draws DNA samples from where?

A

Maternal circulation

250
Q

How early can foetal DNA be detected in the maternal circulation?

A

6 to 8 weeks post LMP

251
Q

The process of forming Barr Bodies with Xist RNA is known as:

A

Lyonisation

252
Q

What is the typical recurrence risk of an autosomal dominant disease?

A

50%

253
Q

What are the four major families of Paracrine Signalling molecules?

A

Fibroblast Growth Factor

Hedgehog

Wingless

Transforming Growth Factor

Four Hedgehogs Walk Together

254
Q

in CAH, 21-Hydroxylase deficiency results in a patient unable to produce which two hormones?

A

Aldosterone, Cortisol

255
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

256
Q

Which molecular screening tool is the most commonly used tool for genetic diagnosis?

A

Direct Mutation Analysis

257
Q

In transduction, the incorporation and proliferation of Phage DNA in to the chromosome of the host bacteria is known as:

Lysogenic Cycle

Lytic Cycle

A

Lysogenic

258
Q

Which cyclin is the longest acting during the cell cycle?

G1/S-Cyclin

S-Cyclin

M-Cyclin

A

S-Cyclin

259
Q

are expressed Pseudogene mRNA used for protein transcription?

A

No

260
Q

Alu elements (Named for the Alu 1 Restriction enzyme) are what type of DNA genes?

A

Short Interspersed Elements

SINEs

261
Q

Continuation of the lagging strand is carried out by which DNA Polymerase?

A

DNA Polymerase Gamma

262
Q

In transduction, phage DNA that utilises bacterial machinery to produce more copies of the virus (with the view to release from the cell) is known as:

The Lysogenic Cycle

The Lytic Cycle

A

Lytic cycle

263
Q

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

True Positives

or

False Negatives

A

True Positives

264
Q

What do geneticists mean by anticipation?

A

Severity of the disease and earliness of onset increases as the disorder is passed from one generation to the next

265
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

266
Q

Specificity is given as a function of True negatives, divided by:

A

True negatives + False Positives

267
Q

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

A

Autosomal Recessive

268
Q

What does Wild Type refer to in protein synthesis?

A

Proteins produced by healthy genes before any mutation

269
Q

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

A

Sarcoma

270
Q

In MILS, what type of error occurs with the gene MT-ATP6 which encodes the ATP synthase complex?

A

Substitution mutation

271
Q

In the Hardy-Weinberg Law formula: p2 + 2pq + q2 = 1 , what does the q2 represent in terms of alleles?

A

Frequency of aa

272
Q

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

A

Tumour Suppresspor genes

Oncogenes

Genes that participate in DNA repair

273
Q

how does the H1N1 vaccine Pandermix attack Hypocretin Neurons?

A

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

274
Q

Specialised E.Coli bacteria deprived of phenylalanine are used in a petrie dish alongside blood samples to detect what disorder?

A

Phenylketonuria

275
Q

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

A

Type I BLS

<em>Bare Lymphocyte Syndrome</em>

276
Q

At what phase of the cell cycle does the error checking of chromosomes formed during S phase occur?

A

G2

277
Q

the BRCA1 and BRCA2 genes associated with cancer of the breasts encodes proteins with what funciton?

A

DNA Repair

278
Q

List three methods of foetal visualisation techniques:

A

Ultrasonography

Radiography

Magnetic Resonance Imaging

279
Q

Fragile X Syndrome is typically more severe in males, or females?

A

Males

280
Q

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

  • Fibrillin-1*
  • Elastin*
A

Fibrillin-1

281
Q

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

A

Class I

282
Q

The Ori found along a chromosome consist of sequences rich in which nucleotide pairs?

AT or CG

A

AT

283
Q

What does Haploinsufficient mean?

A

Affected genes do not produce enough proteins to fulfil their designated function

284
Q

The physical signs of Phenylketonuria are subtle, and mainly present as:

A

Developmental delay

285
Q

Prenatal diagnostic analysis of blastomeres indicates Aongenital Adrenal Hyperplasia, which drug is administed to the mother to prevent masculinisation of a female foetus?

A

Dexamethasone

286
Q

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

A

p53 regulates apoptosis and cell cycle arrest

287
Q

Bloom syndrome, a disease resulting in short stature, cancers and rash from sun exposure is a result of mutation in genes encoding what proteins?

A

DNA Helicase

288
Q

The Prader-Willi gene on chromosome 15 is active, or inactive in paternal chromosomes?

A

Active

289
Q

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

A

Germline cells

290
Q

Methylation upregulates or downregulates gene expression?

A

downregulates

291
Q

What is a Carcinoma?

A

Tumors of epithelial tissues

292
Q

Sickle Cell Anaemia:

Autosomal Dominant, or Recessive?

A

Autosomal Recessive

293
Q

Antisense RNA, miRNA and siRNA perform what functions?

A

Downregulation and suppresion of gene expression

294
Q

How does the process of sequential DNA replication made more time-efficient, given the extraordinary length of DNA molecules?

A

Multiple Ori

Allows parallel dna replication processes along the same chromosome

295
Q

In mitochondrial replacement therapy, in which method is repair carried out after fertilisation?

Pronuclear Transfer

Maternal Spindle Transfer

A

Pronuclear Transfer

296
Q

Polymerase works in which direction - 5’⇒3’ or 3’⇒5’?

A

5’⇒3’

297
Q

Familial Isolated Growth Hormone Deficiency (IGHD) is an example of complex genetic transmission, why?

A

There can be both recessive and dominant IGHD

298
Q

Genes that are considered syntetic are:

A

Found on the same chromosome

299
Q

Resistance gene transfer that is achieved by transferring new DNA via a protein tube between adjacent bacteria is an example of:

  • Conjugation*
  • Transduction*
  • Transformation?*
A

Conjugation

300
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

301
Q

which X-linked recessive disease more common in African American males and linked with protection against malaria results in breakdown of red blood cells?

A

G6PD deficiency

302
Q

A mutation in a trinucleotide encoding the translation of alanine results in no change to the amino acid sequence, was this a misense or a silent mutation?

A

Silent Mutation

303
Q

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

is one diagnostic criteria for what syndrome?

A

Li-Fraumeni Syndrome

304
Q

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

A

PCR

Polymerase Chain Reaction

305
Q

What type of hypothalamic neurons are lost in Narcolepsy?

A

Hypocretin (Orexin) producing neurons

Molecular Biology & Medical Genetics (5 decks)

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