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Genetics :( Flashcards

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1
Q

hyperuricaemia, self injurous behaviour, mod low IQ, dystonic, small

A

Lesch-Nyhan

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2
Q

Alzheimers normal onset gene

A

APOE (allele 4)

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3
Q

Alzheimers early onset genes

A

Amyloid precursor protein
Presenilin 1
Presenilin 2

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4
Q

Meaning of imprinting

A

mat and pat chromosomes express the same gene differently eg Angelman vs PRader willi

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5
Q

MEaning of epistasis

A

gene-gene interaction, can mitigate each other

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6
Q

what happens in prophase

A

nucleus dissolves

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7
Q

metaphase

A

central alignment and spindles

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8
Q

anaphase

A

pulled apart by spindles

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9
Q

telophase

A

new nucleus forms

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10
Q

relative risk of autism in the next sibling of 1 affected child

A

x50

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11
Q

what is an autosome

A

chromosome other than X or Y

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12
Q

In Huntingtons alleles with ___ or more trinucelotide repeats are fully penetrant

A

40

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13
Q

In Huntingtons anticipation is higher in ______ inheritance (mat or pat)

A

Paternal (unlike fragile x or myotonic dystrophy)

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14
Q

the one x in turners is usually mat or pat

A

mat

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15
Q

SHANK genes in what condition

A

autism

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16
Q

what is assortative mating

A

preference for a similar phenotype

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17
Q

what is recombination

A

swapping of genetic info between chromosomes in prophase 1 of meiosis

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18
Q

what is a codon

A

group of 3 nucleotides that code for an amino acid

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19
Q

max number of possible codons in human dna

A

64

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20
Q

x inactivation produces

A

barr bodies

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21
Q

47xxy aka and phenotype

A

klinefelter
feminine features in a man

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22
Q

Clinodayctyly seen in what genetic disorder

A

Trisomy x

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23
Q

GRN/progranulin associatd with what

A

primary progressive aphasia (FTD)

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24
Q

‘non disjunction’- think ____

A

mosaicism

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25
what is aneuploidy
different no. chromosomes to normal eg trisomy 21
26
Phenylketonuria: -inheritance type -psych relevance -enzyme affected
-autosomal recessive -preventable cause of severe LD -phenylalanine hydroxylase
27
rocker bottom feet, low set ears, micrognathia, congenital heart disease
Edwards syndrome Trisomy 18
28
Microphthalmia, microcephaly, cleft palate, coloboma, polydactyly
Patau's Trisomy 13
29
LD, tall, dyspraxic, hypotonia, clinodactyly
47XXX
30
Tall, low IQ, behavioural issues
47XYY (Jacobs)
31
Low hairline, broad chest, short, retrognathia, webbed neck, overall normal IQ
Turners 45X
32
Which of the DNA bases go together
a-t c-g
33
What is the only heritable cause of down's syndrome
Roberstonian translocation
34
22q11.2
Di George
35
25% chance psychosis, LD, absent parathyroid (hypocalc), broad nasal bridge, cleft palate, articulatory speech
Di George
36
Hypercalcaemia at birth, aortic stenosis, mod LD, cocktail party speech, sensitive to noise
Williams
37
LD with self harm behaviours and poor sleep
Smith Magenis
38
Dev delay, low IQ, jerky, smiley, seizures
Angelman
39
Obese, eats loads, short, picks skin, low IQ
Prader willi
40
Swallow and suck issues, strange cry
Cri du Chat
41
MELAS and leber hereditary optic neuropathy type of inheritance
mitochondrial
42
Ash leaf macules
Tuberous sclerosis AD
43
Maxilla-mandibular hypoplasia, malformed pinna, down slanting palpebrae
Treacher collins AD
44
shallow orbits, trapezoid mouth, mitten hands and feet
Apert syndrome AD
45
Short, webbed neck, pulm stenosis, cryptorchidism
Noonan AD
46
After age 2 IQ deteriorates, coarse facies, clouded cornea
Hurler syndrome AR
47
Inheritance of Retts
X linked dominant
48
CGG trinucleotide repeat disorder
fragile X
49
GAA trinucleotide repeat disorder
Friedrichs ataxia
50
CAG trinucleotide repeat disorder
Huntingtons
51
CTG trinucleotide repeat disorder
Myotonic dystrophy
52
Enlarged testes, high voice
fragile X
53
pre-mutant carriers of fragile x show what signs
ataxia intention tremor
54
Neuronal intranuclear inclusions of mutant HTT protein = what disease
Huntingtons
55
Technique to detect specific sequence of DNA
Southern blotting
56
What does PCR do
'photocopies' the sequence of interest (DNA) Oligonucleotide primers
57
What would FISH do
light up if a specific sequence is present
58
What is karyotyping
Visualising the chromosomes eg could see if an X is missing in Turners
59
Meaning of dominance
one gene downplays expression of another
60
How to find the proportion of people who are a carrier in a disease which is 1/x of the popn affected
1. square root the incidence to get x 2. do 2/X and simplify to 1/?
61
genetic drift
change in gene frequency in a size limited population eg an island
62
allelic heteorgeneity
eg 600 mutations all at the same site cause CF
63
Locus heterogeneity
Same phenotype is caused by a mutation at a different location eg early onset alzheimers
64
Pleitropy
a single mutation effects multiple organ systems as in Marfans
65
Endophenotype
a marker (symptoms) present in unaffected relatives eg poor working memory in relatives of schz
66
heritabiltiy of BPAD
high- 85%
67
chance of scz if identical twin has
48%
68
chance of scz in a sibling
10%
69
NOTCH3 associated with
CADASIL
70
Is there a gene associated with LBD
no
71
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