Genetics Flashcards
(126 cards)
1
Q
what is the hertability of ADHD
A
80%
2
Q
which is the most studied receptor in ADHD
A
DRD4
3
Q
what neurotransmtter is released at synapses
A
SNAP25
25KDa gene
4
Q
what is heritability of Alcohol dependence
A
50-60%
5
Q
which enzymes are central to alcohol metabolism
A
ALD1B
ALDH2
6
Q
which genes associated with early onset alzehimers
A
PSEN1 -chr 14
PSEN2 chr 1
SORL1
7
Q
which chorosome associated with APP codes
A
chromosone 21
8
Q
mutuations in what cause alzheimers
A
preselin
9
Q
whats associated with late onset alzhimers
A
apoeprotein e
APOE
10
Q
which chromsome is apoprotein associated with
A
chromosone 19
11
Q
what does apoprotein do
A
breakdown amyloid plaques
12
Q
what subtypes of apoE are associated with chrom 19
A
2,3,4
3 neutral
2 IS PROTECTIVE
13
Q
homozgous apOe And heterzygous
A
10-30x with homo
3x heterozygous
14
Q
which chromosome associated with SORL1
A
chromosome 11
processing of APP
sortilin receptor 1
15
Q
why increased risk of alzehimer in downs
A
chromosome 1
increase in APP protein
16
Q
autism hertibility
A
80-90% monogygotic twins
30% diazyogtic
17
Q
XYY which condition
A
jacobs syndrome
18
Q
47XYY
A
extra y chromosome
1 in 1000
jacobs syndrome
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
20
Q
william syndrome
A
chromosome 7
elfin face
cheerful
low nasal bridge
mild mod mental
1 in 20k
socialibity, sensitivity to sounds
21
Q
VHL associated with
A
haemangiomas
autosomal dominant
abnormality in VHL gene on chr 3
VHL -3
22
Q
what is velocardiofactial syndrome
A
cleft palate
22q11 association
23
Q
what type of inheritance is tuberclosis sclerosis
A
autosomal dominant
TSC1/2 mutatons
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
25
how does TS differ from neurofibroma
neurofibroma has iris lisch nodules
26
CGG
fragile X
27
MYOTONIC DYSTORPHY
CTG
28
cag
huntingtons dx
29
caa
federich ataxia
30
spinocerebellar ataxia
cag
31
pick bodies seen in
FTD
32
what is a centimorgan
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
32
LOG
statistical marker
olgrithm of odds
genetic likage between two genes
>3 strong minkage
>-2 strong evidence against
33
splicing is
process of DNA to mRNA
introns removed
excon translate to protein
spliced rna IS mRNA
34
segreation analysis
statistica methjod from
phenotype
procedure to identify the presence of segregation at a major Mendelian locus, with/without multifactorial inheritance, is
35
linkage analysis
genetic location of a disease on gene and identify whch is inherted by affected memebrs
36
schizopjhrenia identical twins
48%
37
schizophrenia
offspring with 2 patients
children
full sibling
parent/half sibling
46%
13%
9%
6%
38
schizo genes and locations
DISC1 - CHR 1
DISC 2 - CHR11
DTNBP1 -CHR 6
COMT -CHR 22
6P22.3
39
which is strongest candidate for schizo
comt
doapmine from synpases cleared
metabolises doapmine in prefrontal cortex
40
what is neurogrelin associated with
increase in schizo
reduces glumatate an DNA receptor
41
what was seen in irish families
dysbindin
reduced in shcizophrenia
glutmate
42
ubquitin is made of
4 rings around pore with 7 protein in each ring
43
hiw are most parkinson cases occured
idopathic
sporadic
44
what is a major gene in parkinson
what chromosome
SNCA
chromosome 4
auto dOMINANT
45
what does SNCA code
alpha synuclein
46
whats diff between NF1 and NF2
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
47
# NF2
when does myotnic dystrophy present
20-30 years of lif
emore common in men
Autosomal dominant
48
which are the two genes associated with it
DM1 - chr 19 - CTG repeat
dm2 -znf9 GENE CHROMOSOME 3
49
what is DM2 associated with an DM1
DM1 - distal weakness
DM2- proximal weakness
50
what systemic symptoms more specific to DM2
cardiomyopathy
dysphagia
51
what are point mutations
substitutions
deletion
insertions
diseases
sick cell
beta thalasemmia
CF
52
whayt are examples of chromosomal mutations
inversion
deleton
duplication
translocation
53
what is CMV
copy mutation variant
gene amplified with trandem
expanding trinucelitide repeat
example is: fragile x , huntington disease
54
mccune albright syndrome
abnormal scar like fibrous tissue
polyostotic fibrious dysplasia
mutation in GnAS gene
moscacism
cafe au laif, preocouious puberty, short stature
55
what are gametes
sperm and egg
sex cells
half of genetic material
haploid
56
two gametes form
cells with two sets of genetic info
diploid cell
57
meisosis
process to replicatea dna with info from two chromosomes
58
2nd division
four cells
59
what is cytokinesis
splitting of the cell into two new cells
60
what is a chimeras
different zygotes
organism with cells which have more than oen genotype
61
mosaics
genetically different cells from one zygote
62
aneuploidy
abnormal number of chromosomes
23 pairs
63
kleinfers syndrome
47
XXY
64
example of a monosomes
45 chromosomes
turner 45x
65
what is karotyping
process of ordering, visualising
66
what is digeorge syndrome associated with
22q11
velocraniofacial syndrome
67
angelmann
15 chormosone
deletion
matrernal
68
prada willi syndrome
chromosome 15
paternal
69
what is cric du chat associated with
chromosome 5
70
patau
edwards
huntdingon
VHL
chr 13
chr 18
chr4
chr 3
71
how many triple sequences/codon
64
72
which are stop cofons
UAA
UAG
UGA
73
# G
dylexia hertibability
40-60%
74
what are the two types of dystrophies
muscular duchennes
beckers
x linked
mutation in xp21 DYSTROPHIN GENE
75
gene associayted with fragile x
FMR1
76
how does RNA differ from DNA
U matches with A
rather than T
DNA A--T
RNA A---U
77
what is niemann pick
11p15
cherry red spots
abdo swelling
78
greke warrrior helmet face
wolff hnschson
left lip
4p
79
xq28
retts
loss of skills from 10 months
hand wriggling
80
how does DNA become rna
transcription
RNA to protein is translation
81
what is proganulin assciated with
FTD
82
duffy null genotype - specific
specific ethnic groups
e.g. neutropenia in ME, Africian
83
what is locus haterogeneity
mutations in gene at different chromosomal loci
84
what is lyonisation
x inactivation in gemales
silencing of one of the x chromosomes
in early embryogenesis
85
moleculr testing is used for
specific gene mutation
DNA/RNA sequences
highly specific
86
what is karotyping used for
chromosomal abnormalities and structural abnormalities
87
# **
what is fish USED FOR
specific dna sequences on chromosomes to pintpoint
88
microarray anlysois
screening
SNP/CMV
89
adenosine is a
purine
90
genomic imprinting
is it from mum or dad
91
what is blotting used for
gene mitations
southern - DNA
Northern -RNA
Western - protein
92
how does blotting help
carriers
predictive , diagnostic
93
what is gene frequency
the proprtion of populaton which caries one type of allele
94
whats the famous HW equation
the allele+ genotype frquence
95
other allele frquencey equation
p squared plus q squared plus 2pq =/1
96
# y on
Smith magenis syndrome
17p
96
what 5 things does HW rely on
mo mutations
no gene flow
mating is radnom
large popilation
difference in genotype do not confer / no natural selection
97
retts
xq28
98
barr body
inactivated x chromsome
in lyonisation
99
proband
1st individual with specific trait/mutation
100
chromatid
1 part of the chromosome
from oen parent
101
what are the heritability rates of
major depression
ocd
anorexia
schizophrenia
autism
alcoholism
adhd
bipolar
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
haplotyp =e
gorup of genes from one patient
single choromosome
103
nonsense
missense
frameshift
nonsense: stop codon
missense ; change in one AA, same codon
frameshift : new codon
104
what is hunters syndrome
x linked inhertence
muccsopysacahride type 2
male>female
105
rna to trna by
aminoactyl trna synthesis
106
which chromosome is dysbindin associated with
6
107
what chromosomes please for bellow
NRG1
G72
GDS4
DAOA
DISC1
DRD2
NRG1 - 8p21-22
G72 -chr 13
rgS4 -1
DAOA -14
DISC1 -1
DRD2 -11
108
associated with dyslexia
DCDC2
109
how many autosome s
44
non sex chromosomes
110
another word for HTT gene and which condition and chr
huntington
IT15
CHR 4
111
what is c9orf72 associated with
chr 9
FTD
112
What is SNCA associated with
chr 4
lewbody dementia
113
which chr is progranulin asspciated with
17
114
cadasil
strokes migrains
chr 19
notch 3
115
GBA lb dementia
chr 1
116
wilson dx
a recessive
chr 15
ATP7B
117
vertical transmisison
horiztonal transmisson
knights move
auto d
AUTO R
x liinked
118
order for cell cycle
G1-growth
S -dna replication 2 identical sister chromatids
G2 growth and errror check and repair
m-division amd mitosis steps
119
proband and prowise
prowise - twins both having condition /total no of twins
proband -if 1 twin. has, probability other one will get
120
genes with alochol and ethnicity
homogzoug 95% , ADHB1 hetegrogous 5% ADHB1/2
caucasian
ADH1B2 ASIAN
ADH1B1 AFRICAN
121
fast and slow metabolism of alohol
ADH1C*1. ADH1B*2. alohol fast
adh1b1 slow. 4Q2123
122
123
endophenotype
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
124
