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Mol Gen > Random Facts > Flashcards

Random Facts Flashcards

1
Q

Fragile X frequency

A

1/1000 males

1/500 females

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2
Q

Fragile X premutation length

A

56-200 repeats

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3
Q

How many mutations in beta thalassemia?

A

250 mutations in beta globin gene

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4
Q

What genes are involved in XP?

A

ERCC2, ERCC3, POLH, XPA, XPC

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5
Q

What genes are involved in cockayne syndrome?

A

ERCC6, ERCC8

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6
Q

What genes are involved in trichothiodystrophy?

A

ERCC2, ERCC3, GRF2H5

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7
Q

Cockayne syndrome frequency

A

1 in 2 million

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8
Q

Trichothiodystrophy frequency

A

1 in 1 million

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9
Q

What are the two alleles for Adh? Point mutation / deletion?

A

Adh-f
Adh-S

One change in AA (Threonine –> Lysine)

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10
Q

What is the gene for cystic fibrosis?
What type of mutation? How many identified?
How big is the gene?

A

CFTR (cystic fibrosis transmembrane conductance regulator) - pumps Cl- out of cells

Delta508 (85% cases) - single AA removed by 3bp deletion NOT FRAMESHIFT MUTATION

Over 1800 mutations identified

250kb

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11
Q

How many people are heterozygotes for Cystic fibrosis ?

A

1/20 to 1/44

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12
Q

How does CF have heterozygote advantage?

A

Not as many deaths related to diarrheic cholera

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13
Q

What is the gene involved with HIV-1?
What is mutation?
What are genotypes?

A

CCR5 (encodes CCR5 protein - receptor for HIV-1)

Delta 32 = 32 base pair deletion
1/1 = reistant to most HIV-1
1/Delta32 = susceptible, but slow transition to AIDS
Delta32/Delta32 = resistance to most ST HIV-1

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14
Q

Consequences of consanguinity?

A

More chance of revealing deleterious recessive alleles

Everyone has about 4 genes that would be lethal if they were homozygous recessive

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15
Q

What is coefficient of inbreeding?

Interpret

A

F = quantifies the probability that an individual has two alleles that are identical because they are descended from a single gene copy from the same ancestor

F = 1 (all individuals in the population are homozygous - both alleles all come from a common ancestor)

F = 0 (no individual has the same copy of an allele - none derived from a common ancestor)

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16
Q

How similar are humans….

A
  1. 7% to neanderthals

98. 8% to chimpanzees

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17
Q

Stuttering is related to what chromosome? How many genes? What is one called?

A

Chromsome 12
87 genes within the sequence
Likely candidate gene is called GNPTAB

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18
Q

How far does LD extend between neighbouring common sites

A

3 to 8kb (theoretically)

19
Q

Prader Willi can be caused by: _________

A 
Paternal deletion
Uniparental disomy (2x maternal)
Mutation + translocation (rare)
20
Q

Angelman syndrome can be caused by: __________

A 
Maternal deletion
Uniparental disomy (2x paternal)
Maternal point mutation in UBE3A
21
Q

What are key gene effects for Prader Willi?

A

Absence of guide RNAs
snoRNAs
SNORD116

22
Q

What are symptoms for PRader Willi?

A

ABLOS

excessive Amniotic fluid
Breech birth (low foetal movement)
Lethargy
Overeating --> obesity
Squinty / Strabismus
23
Q

What are symptoms for Angelman?

A

AE PMI

Ataxia
Epilepsy
Peculiar gait
Microcephaly
Intellectual disability
24
Q

What are gene effects for Angelman?

A

UBE3A (encodes enzyme that targets protein for destruction)

Also - incident loss of OCA2 –> hypopigmetnation of skin, hair, eyes

25
Q

What chromosome is Prader Willi and Angelman linked to?

A

Chr 15 q11-13

26
Q

What chromosome is Beckwith Weideman and Silver Russell Syndrome linke to?

A

Chr 11 q15.5

27
Q

BWS and SRS occur due to:

A

Differential methylation

28
Q

What are the genes involved in BWS and SRS? Which does what?

A 
H19 = noncoding RNA = growth repressor
IGF2 = insulin growth factor 2 = stimulates growth
BWS = IGF2 increased, H19 decreased
SRS = IGF2 decreased, H19 increased
29
Q

What are causes of BWS?

A

Mutation causing hypermethylation of DMR

Uniparental disomy of paternal chromosome

30
Q

What are causes of SRS?

A

Hypomethylation of DMR

Uniparental disomy of maternal chromosome

31
Q

What are the symptoms of BWS?

A

OMMGV

Obesity
Macrosomia (big body) - height 2.5 SD above mean at puberty
Macroglossia - large tongue
Genital overgrowth
Visceromegaly - enlarged viscera
32
Q

What are the symptoms of SRS?

A

DD LHJ

Dwarf syndrome
Delayed development
Low birth weight
Head normal (relative to body)
Small jaw
33
Q

Frequency of Prader Willi.

A

1/15,000

34
Q

Frequency of Angelman.

A

1/20,000

35
Q

What is the allele for Agouti? Dominant/recessive? Phenotype?

A

Avy - inserted by transposon in response to BPA

DOMINANT lethal
Yellow coat, obese, prone to cancer, diabetes

36
Q

What occurs in Dutch Winter Famine?

A

Hypomethylation of IGF2 (unregulated)

Hypermethylation of leptin (satiety hormone) (downregulated)

37
Q

Frequency of ASD

A

3.4/1,000

38
Q

Frequency of WBS

A

1/20,000

39
Q

ASD chromsome?

A

Chr 7 q 11

40
Q

WBS chromsome?

A

Chr 7 q 11

41
Q

Where is the HER-2 gene?

A

Chromsome 17

42
Q

Warfarin is associated with which genes?

A

Mutation in CYP2C9 –> reduce elimination of warfarin
and
Mutation in VKORC –> less activation of vitamin K clotting factors (increases sensitivity to warfarin)

Require lower dose of warfarin

43
Q

Fragile X gene region

A

Xp27

Causes methylation of nearby gene: FMR1

Mol Gen (1 decks)

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