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Neurosciences > Molecular Genetics > Flashcards

Molecular Genetics Flashcards

1
Q

Heretability of alcohol

A

45-65%

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2
Q

Risk of ASD in siblings of children with ASD

A

50-100 x

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3
Q

Monozygotic concordance of ASD

A

60-90%

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4
Q

Dizygotic concordance of ASD

A

30%

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5
Q

Which enzyme is deficient in Niemann Pick Disease?

A

Sphingomyelinase

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6
Q

Which enzyme is deficient in Lesch Nyhan syndrome?

A

Hypoxanthine phosphoribosyltransferase

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7
Q

By which process can genes be deactivated?

A

Methylation

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8
Q

Facial features in Di George syndrom

A

Microcephaly
Cleft palate
Small mouth
Long face
Prominent tubular nose
Hypoplasia of adenoids
Narrow palpebral fissure

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9
Q

Other (non facial) features in Di George syndrome

A

Hypospadias
Long, thin hands
Cardiac abnormalities
LD
Schizophrenia
Blunted affect

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10
Q

Which blot technique can be used to visualise restriction fragment length polymorphisms?

A

Southern blotting

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11
Q

Following synthesis, proteins are stored temporarily in

A

Golgi complex

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12
Q

Trisomy X results in how many Barr bodies

A

2

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13
Q

Pair of alleles from each parent separate, and only one from each passes to offspring

A

Law of segregation

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14
Q

What is a premutant carrier of Fragile X expansion?

A

Increase CGG repeats in FMR1 locus - increased risk of intention tremor and ataxia

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15
Q

How many autosomes in a human somatic cell

A

44

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16
Q

Complete meiosis of one cell results in how many daughter cells

A

4

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17
Q

Interviewing all 1st degree relatives of affected patients = what kind of study

A

Family Study

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18
Q

Where is progranulin mRNA widely expressed?

A
  • rapidly cycling epithelial cells
  • immune system
  • cerebellar purkinje cells
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19
Q

Which condition results from an abnormality in the locus encoding progranulin?

A

Primary progressive aphasia

20
Q

Which type of Downs syndrome can be equally likely inherited from either parent

A

Robertsonian translocation

21
Q

Which cell cycle phase does a neuron spend most of it’s time

A

G0

22
Q

Nondisjunction occurring after fertilisation in any cell results in what

A

Mosaicism

23
Q

What type of genetic study uses cases and controls, or families with internal controls?

A

Association study

24
Q

Synthesis of RNA from DNA template is done by…

A

RNA Polymerase

25
Q

Genes implicated in Noonan syndrome

A

(Autosomal dominant)

  • PTPN11
  • SOS1
  • KRAS
26
Q

Gene responsible for puberty

A

KISS1

27
Q

Syndrome of late/absent puberty and impaired smell

A

Kallman syndrome

28
Q

Start codon

A

AUG

29
Q

Stop codons

A

UAA
UAG
UGA

30
Q

What does AUG code for?

A

Methionine

31
Q

What method can detect abnormal trinucleotide expansions

A

PCR

32
Q

Intellectual disability, rocker bottom feet, clenched hands, low set ears, micrognathia, prominent occiput, heart disease

A

Trisomy 18 = Edward’s syndrome

33
Q

Risk of alcoholism in genetic vs adopted children with strong family history

A

Genetic - 4-6 times
Adopted - 3-4 times

34
Q

Same disease phenotype caused by mutations in different loci

A

Locus heterogeneity

35
Q

Commonest cardiac defect in Downs

A

Endocardial cushion defect

36
Q

Vectors are used in which analysis method

A

DNA Cloning

37
Q

HW equation - what is the carrier frequency

A

2 x sq.root frequency

38
Q

Steps in PCR

A
  1. Denaturing
  2. Cooling and annealing
  3. Extend primers
    (Repeat cycles)
39
Q

What is one centimorgan

A

1% recombination fraction = 1cM = 1 megabase DNA

40
Q

Which enzyme mediates binding of tRNA with amino acids?

A

Aminoacyl synthetase
(process = aminoacylation)

41
Q

Process of one gene alteration mitigating the effects of another

A

Epistasis

42
Q

Commonest mutation seen in thalassaemia

A

Missense

43
Q

Gene polymorphism involved in serotonin transporter variations

A

SLC6A4

(transport like car reg)

44
Q

Post translation modification of proteins

A

Phosphorylation

45
Q

Identify a specific disease locus

A

Association studies

46
Q

Identify chromosomal location of disease locus

A

Linkage studies

47
Q

Implicate molecular pathways

A

Transgenic analysis

Neurosciences (19 decks)

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