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LS MRPSYCH > Genetics > Flashcards

Genetics Flashcards

1
Q

what is the hertability of ADHD

A

80%

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2
Q

which is the most studied receptor in ADHD

A

DRD4

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3
Q

what neurotransmtter is released at synapses

A

SNAP25
25KDa gene

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4
Q

what is heritability of Alcohol dependence

A

50-60%

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5
Q

which enzymes are central to alcohol metabolism

A

ALD1B
ALDH2

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6
Q

which genes associated with early onset alzehimers

A

PSEN1 -chr 14
PSEN2 chr 1
SORL1

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7
Q

which chorosome associated with APP codes

A

chromosone 21

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8
Q

mutuations in what cause alzheimers

A

preselin

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9
Q

whats associated with late onset alzhimers

A

apoeprotein e
APOE

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10
Q

which chromsome is apoprotein associated with

A

chromosone 19

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11
Q

what does apoprotein do

A

breakdown amyloid plaques

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12
Q

what subtypes of apoE are associated with chrom 19

A

2,3,4
3 neutral
2 IS PROTECTIVE

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13
Q

homozgous apOe And heterzygous

A

10-30x with homo
3x heterozygous

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14
Q

which chromosome associated with SORL1

A

chromosome 11
processing of APP
sortilin receptor 1

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15
Q

why increased risk of alzehimer in downs

A

chromosome 1
increase in APP protein

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16
Q

autism hertibility

A

80-90% monogygotic twins
30% diazyogtic

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17
Q

XYY which condition

A

jacobs syndrome

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18
Q

47XYY

A

extra y chromosome
1 in 1000
jacobs syndrome

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19
Q

how do patients with jacobs present

A

high tall stature
strong build but normal testosterone
fertility and sexual development unaffected

usually with ASD, ADHD and emotional priblems

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20
Q

william syndrome

A

chromosome 7
elfin face
cheerful
low nasal bridge
mild mod mental
1 in 20k
socialibity, sensitivity to sounds

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21
Q

VHL associated with

A

haemangiomas
autosomal dominant
abnormality in VHL gene on chr 3

VHL -3

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22
Q

what is velocardiofactial syndrome

A

cleft palate
22q11 association

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23
Q

what type of inheritance is tuberclosis sclerosis

A

autosomal dominant

TSC1/2 mutatons

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24
Q

what is seen with tuberclosis sclerosis

A

fibromata
ashleaf spots
rough path on lumbar spine
adenoma secbaceum on nose
epilepsey
interellectual impairment

retinal haematoma
rabdhoma
Polycystic kindey
lung cesis lymphpageolnmatyosis

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25
Q

how does TS differ from neurofibroma

A

neurofibroma has iris lisch nodules

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26
Q

CGG

A

fragile X

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27
Q

MYOTONIC DYSTORPHY

A

CTG

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28
Q

cag

A

huntingtons dx

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29
Q

caa

A

federich ataxia

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30
Q

spinocerebellar ataxia

A

cag

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31
Q

pick bodies seen in

A

FTD

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32
Q

what is a centimorgan

A

representings 1cm
1% change of recebombination between 2 genes
calculate relative distance

1% chance that two markers on a chromosome will become separated from one another due to a recombination event during meios

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32
Q

LOG

A

statistical marker
olgrithm of odds
genetic likage between two genes
>3 strong minkage
>-2 strong evidence against

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33
Q

splicing is

A

process of DNA to mRNA

introns removed
excon translate to protein
spliced rna IS mRNA

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34
Q

segreation analysis

A

statistica methjod from

phenotype

procedure to identify the presence of segregation at a major Mendelian locus, with/without multifactorial inheritance, is

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35
Q

linkage analysis

A

genetic location of a disease on gene and identify whch is inherted by affected memebrs

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36
Q

schizopjhrenia identical twins

A

48%

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37
Q

schizophrenia
offspring with 2 patients

children

full sibling

parent/half sibling

A

46%

13%

9%

6%

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38
Q

schizo genes and locations

A

DISC1 - CHR 1
DISC 2 - CHR11
DTNBP1 -CHR 6
COMT -CHR 22
6P22.3

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39
Q

which is strongest candidate for schizo

A

comt
doapmine from synpases cleared
metabolises doapmine in prefrontal cortex

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40
Q

what is neurogrelin associated with

A

increase in schizo

reduces glumatate an DNA receptor

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41
Q

what was seen in irish families

A

dysbindin

reduced in shcizophrenia
glutmate

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42
Q

ubquitin is made of

A

4 rings around pore with 7 protein in each ring

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43
Q

hiw are most parkinson cases occured

A

idopathic
sporadic

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44
Q

what is a major gene in parkinson
what chromosome

A

SNCA
chromosome 4
auto dOMINANT

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45
Q

what does SNCA code

A

alpha synuclein

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46
Q

whats diff between NF1 and NF2

A

NF1 1 in 4 k- groin and axilla freckling
iris haemtoma
phachromatgema
sclsosis
cafe of lait >6 with >5cm

nf2 - von recklinghauser syndrome chr 22
bilaterally acoustic neuroma
schowamma
1 in 100k

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47
Q

NF2

when does myotnic dystrophy present

A

20-30 years of lif
emore common in men
Autosomal dominant

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48
Q

which are the two genes associated with it

A

DM1 - chr 19 - CTG repeat
dm2 -znf9 GENE CHROMOSOME 3

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49
Q

what is DM2 associated with an DM1

A

DM1 - distal weakness
DM2- proximal weakness

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50
Q

what systemic symptoms more specific to DM2

A

cardiomyopathy
dysphagia

51
Q

what are point mutations

A

substitutions
deletion
insertions

diseases
sick cell
beta thalasemmia
CF

52
Q

whayt are examples of chromosomal mutations

A

inversion
deleton
duplication
translocation

53
Q

what is CMV

A

copy mutation variant
gene amplified with trandem
expanding trinucelitide repeat
example is: fragile x , huntington disease

54
Q

mccune albright syndrome

A

abnormal scar like fibrous tissue
polyostotic fibrious dysplasia

mutation in GnAS gene
moscacism

cafe au laif, preocouious puberty, short stature

55
Q

what are gametes

A

sperm and egg
sex cells
half of genetic material
haploid

56
Q

two gametes form

A

cells with two sets of genetic info
diploid cell

57
Q

meisosis

A

process to replicatea dna with info from two chromosomes

58
Q

2nd division

A

four cells

59
Q

what is cytokinesis

A

splitting of the cell into two new cells

60
Q

what is a chimeras

A

different zygotes
organism with cells which have more than oen genotype

61
Q

mosaics

A

genetically different cells from one zygote

62
Q

aneuploidy

A

abnormal number of chromosomes
23 pairs

63
Q

kleinfers syndrome

64
Q

example of a monosomes

A

45 chromosomes
turner 45x

65
Q

what is karotyping

A

process of ordering, visualising

66
Q

what is digeorge syndrome associated with

A

22q11

velocraniofacial syndrome

67
Q

angelmann

A

15 chormosone
deletion
matrernal

68
Q

prada willi syndrome

A

chromosome 15
paternal

69
Q

what is cric du chat associated with

A

chromosome 5

70
Q

patau
edwards
huntdingon
VHL

A

chr 13
chr 18
chr4
chr 3

71
Q

how many triple sequences/codon

72
Q

which are stop cofons

73
Q

G

dylexia hertibability

74
Q

what are the two types of dystrophies

A

muscular duchennes

beckers
x linked
mutation in xp21 DYSTROPHIN GENE

75
Q

gene associayted with fragile x

76
Q

how does RNA differ from DNA

A

U matches with A
rather than T

DNA A–T
RNA A—U

77
Q

what is niemann pick

A

11p15
cherry red spots
abdo swelling

78
Q

greke warrrior helmet face

A

wolff hnschson
left lip
4p

79
Q

xq28

A

retts
loss of skills from 10 months
hand wriggling

80
Q

how does DNA become rna

A

transcription

RNA to protein is translation

81
Q

what is proganulin assciated with

82
Q

duffy null genotype - specific

A

specific ethnic groups
e.g. neutropenia in ME, Africian

83
Q

what is locus haterogeneity

A

mutations in gene at different chromosomal loci

84
Q

what is lyonisation

A

x inactivation in gemales
silencing of one of the x chromosomes
in early embryogenesis

85
Q

moleculr testing is used for

A

specific gene mutation
DNA/RNA sequences

highly specific

86
Q

what is karotyping used for

A

chromosomal abnormalities and structural abnormalities

87
Q

**

what is fish USED FOR

A

specific dna sequences on chromosomes to pintpoint

88
Q

microarray anlysois

A

screening
SNP/CMV

89
Q

adenosine is a

90
Q

genomic imprinting

A

is it from mum or dad

91
Q

what is blotting used for

A

gene mitations

southern - DNA
Northern -RNA
Western - protein

92
Q

how does blotting help

A

carriers
predictive , diagnostic

93
Q

what is gene frequency

A

the proprtion of populaton which caries one type of allele

94
Q

whats the famous HW equation

A

the allele+ genotype frquence

95
Q

other allele frquencey equation

A

p squared plus q squared plus 2pq =/1

96
Q

y on

Smith magenis syndrome

96
Q

what 5 things does HW rely on

A

mo mutations
no gene flow
mating is radnom
large popilation
difference in genotype do not confer / no natural selection

97
Q

retts

98
Q

barr body

A

inactivated x chromsome
in lyonisation

99
Q

proband

A

1st individual with specific trait/mutation

100
Q

chromatid

A

1 part of the chromosome
from oen parent

101
Q

what are the heritability rates of

major depression
ocd
anorexia
schizophrenia
autism
alcoholism
adhd
bipolar

A

major depression 30-40%
ocd 40-60%
alcohol dependence 40-60
anorexia 35
bipolar 60-80
schizo 80
ADHD 70-80
autism 80-90

102
Q

haplotyp =e

A

gorup of genes from one patient
single choromosome

103
Q

nonsense
missense
frameshift

A

nonsense: stop codon
missense ; change in one AA, same codon
frameshift : new codon

104
Q

what is hunters syndrome

A

x linked inhertence
muccsopysacahride type 2
male>female

105
Q

rna to trna by

A

aminoactyl trna synthesis

106
Q

which chromosome is dysbindin associated with

107
Q

what chromosomes please for bellow

NRG1
G72
GDS4
DAOA
DISC1
DRD2

A

NRG1 - 8p21-22
G72 -chr 13
rgS4 -1
DAOA -14
DISC1 -1
DRD2 -11

108
Q

associated with dyslexia

109
Q

how many autosome s

A

44
non sex chromosomes

110
Q

another word for HTT gene and which condition and chr

A

huntington
IT15
CHR 4

111
Q

what is c9orf72 associated with

112
Q

What is SNCA associated with

A

chr 4
lewbody dementia

113
Q

which chr is progranulin asspciated with

114
Q

cadasil

A

strokes migrains
chr 19
notch 3

115
Q

GBA lb dementia

116
Q

wilson dx

A

a recessive
chr 15
ATP7B

117
Q

vertical transmisison
horiztonal transmisson
knights move

A

auto d
AUTO R
x liinked

118
Q

order for cell cycle

A

G1-growth
S -dna replication 2 identical sister chromatids
G2 growth and errror check and repair
m-division amd mitosis steps

119
Q

proband and prowise

A

prowise - twins both having condition /total no of twins

proband -if 1 twin. has, probability other one will get

120
Q

genes with alochol and ethnicity

A

homogzoug 95% , ADHB1 hetegrogous 5% ADHB1/2
caucasian

ADH1B2 ASIAN
ADH1B1 AFRICAN

121
Q

fast and slow metabolism of alohol

A

ADH1C1. ADH1B2. alohol fast

adh1b1 slow. 4Q2123

123
Q

endophenotype

A

gottemanns
six principles

cosegregate within family
higher ina ffected fam than gen ppopulation
segregate illness in a population
hertiable

a measure which is somethign perhaps biochemical , neurophysiological etc specific to illness

LS MRPSYCH (17 decks)

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