GiM Flashcards
(127 cards)
1
Q
Gleevec is also known as
A
Imantinib
2
Q
Predictive testing is done in what condition?
A
Huntington’s disease
3
Q
Liddle syndrome can cause
A
hypertension
4
Q
Mutations in KCNJ10 can cause
A
epilepsy
5
Q
The mutation t(9;22) is known as a
A
Philadephia chromosome
6
Q
Myotonic dystrophy, Marfan syndrome and Huntington’s disease all have what inheritance pattern?
A
Autosomal dominant
7
Q
In AD inheritance, what is the chance that offspring inherit the disease?
A
50%
8
Q
22q11b deletion syndrome has what pattern
A
Autosomal dominant inheritance
9
Q
The frequency with which a genotype is expressed is also known as
A
Penetrance
10
Q
What mutation has incomplete penetrance?
A
BRCA1
11
Q
Variation in expression is known as
A
expressivity
12
Q
Where symptoms are apparent at a much earlier age as you go down in generations is known as
A
anticipation
13
Q
Consanguineous relationships can mean that offspring have a high risk of what type of inheritance pattern
A
Autosomal recessive
14
Q
In AR inheritance, what is the chance that offspring inherit the disease?
What is the risk of being a carrier?
A
25%
2/3
15
Q
CF and many metabolic disorders have what inheritance pattern?
A
AR
16
Q
In X-linked inheritance, who is more affected, males or females?
A
Males
17
Q
DMD, Fragile X syndrome and colour blindness are examples of
A
X-linked inheritance
18
Q
What factors affect phenotype expression in females?
A
X inactivation and XL dominant/recessive inheritance
19
Q
Lyonisation is also known as
A
X inactivation
20
Q
Random preference for the normal X chromosome to be inactivated is known as
A
Skewed X-inactivation
21
Q
Rett syndrome shows what type of inheritance pattern
A
XL dominant
22
Q
How many genes are there in each mitochondria?
A
27
23
Q
What are examples of mitochondrial inherited disorders
A
Maternally inherited diabetes and deafness
24
Q
PCR requires an excess of what
A
primers, nucleotides and enzyme
25
What temperature does Taq polymerase work at?
94 degrees
26
The CF mutation F508 del can be found by looking for what in PCR
product size
27
The connexion 26 assay looks for what in PCR
single base deletion
28
OLA requires an excess of what
normal allele specific primer
mutat allele specific primer
shared primer
29
In what conditions might PCR be difficult to do
If the gene is too big
| If there are GC rich regions
30
Southern blotting uses
DNA
31
Western blotting uses
protein
32
Northern blotting uses
RNA
33
DNA is written in what direction
5 prime- 3 prime
34
Which carbon in DNA lacks an OH'
2nd
35
Replication takes place in which stage of the cell cycle?e
S phase
36
Which is the biggest and smaller chromosome in the human genome?
chromosome 1 is the biggest and chromosome 22 is the smallest
37
Approximately how many protein-coding genes are contained in our genome?
20,000
38
What is required for splicing?
The correct splice donor and acceptor
39
Alternate splicing creates
diversity
40
Processed genes lack
introns
41
Individual chromosome identification can occur with the use of what type of satellite DNA?
Alphoid DNA, which is found at centromeres
42
All repeats are examples of what
SINE (Short Interspersed Nuclear Elements)
43
In DMD, there is a frameshift and the code is read as junk, leading to the protein to be truncated. This is known as a
out-of-frame deletion
44
Charcot-Marie-Tooth disease is due to large
duplications in the genome
45
The F8C gene is inverted in what condition
Haemophilia A
46
How many codons code for the amino acids?
64
47
Arg--> Trp is an example of what type of mutation
non-conservative
48
T can easily be changed to methyl C via what process
deamination
49
cDNA is synthesised from
single strand RNA
50
CGG repeats occur in
Fragile X
51
CAG repeats occur in
HD and Spinocerebellar ataxias
52
q=1-p can be used to calculate the frequency of
the normal allele
53
Trisomy 18 is also known as
Edward's syndrome
54
What is the most common SNP?
C ---> T
55
What can be used for fingerprinting?
Simple repeats
56
The FOXP2 gene is highly conserved and mutations in it are associated with
speech and language disorders
57
G banded metaphase can be used to identify conditions such as
Kleinfelters syndrome
58
the gain or loss of chromosomes is known as
aneuploidy
59
the gain of whole sets of chromosomes is known as
polyploidy
60
At what stage do chromatids separate?
anaphase II
61
Trisomy 13 is also known as
Patau syndrome
62
5th finger clinodactyly is common in what condition?
Downs syndrome
63
polydactyly is common in what condition?
Patau syndrome
64
Most autosomal aneuploidy is associated with
increased maternal age
65
In sex chromosome aneuploidy, the phenotype is
less severe than in autosomal aneuploidy
66
47, XXY is also known as
Kleinfelters syndrome
67
45, X is also known as
Turners syndrome
68
In what type of pregnancy will the placenta be large with a relatively normal foetus?
Double paternal
69
In molar pregnancies, what is still produced?
hCG
70
What type of translocation usually occurs close to the centromere?
Robertsonian
71
t(13;15) is a
robertsonian translocation
72
What inversion breaks in the p&q arms and does a 180 rotation?
Pericentric
73
A high copy number of CCL3L1 leads to a
decreased susceptibility of HIV
74
A low copy number of FCGK3B leads to an
increased susceptibility to inflammatory autoimmune diseases
75
A low haploinsufficiency score indicates
a greater likelihood of pathogenicity
76
QF-PCR can be used for
prenatal aneuploidy detection
77
Meiotic pairings where there is a translocation lead to
Pachytene crosses
78
Amniocentesis occurs at
16 weeks
79
Increased nuchal thickening, increased B-hCG and decreased PAPP-A can point to
Trisomy 21
80
the t(9;22) translocation is associated with
CML
81
Retinoblastomas is an example of when cancer genes obey what hypothesis
two-hit hypothesis
82
Most cancer syndromes show what inheritance pattern?
AD
83
What is the purpose of diagnostic testing?
To identify the familial mutation
84
What is the purpose of predictive testing?
To determine whether a relative is at risk
85
What is used to diagnose Lynch syndrome?
Amsterdam criteria
86
In what cancer should radiotherapy be avoided?
Li-Fraumeni syndrome
87
Waardenburg syndrome causes
a white forelock, sensorineural hearing impairment and iris heterochromia
88
DiGeorge is caused by
22q11.2 deletion
89
'cocktail party' speech is common in what condition?
William's syndrome
90
Omaphlocele, neonatal hypoglycaemia and a large tongue are common in what condition?
Beckwith-Wiedemann syndrome
91
premature breast development occurs in what condition?
Kabuki syndrome
92
Blaschko's lines may indicate
mosaicism
93
What condition has a classic dad, son pattern?
Trencher-Collins syndrome
94
Palmister Killian syndrome leads to
developmental delay
95
Smith-Limli Opitz syndrome has to do with what pathway?
Cholesterol
96
Normal distributions form what type of graph?
Gaussian 'bell-shaped curve'
97
In pregnancy, when should folic acid be taken to help prevent NTDs
1 month pre-conception to 3 months after conception
98
PSEN1 and PSEN2 are both involved with what disease?
Alzheimer's
99
APOE4 is a polymorphism that
greatly increases the risk of getting Alzheimer's
100
Linkage mapping is powerful for
rare variants of disease
101
Association mapping is powerful for
common variants of disease
102
Linkage disequilibrium is where
a gene that is close in loci to a diseased gene is always inherited together
103
What is a hallmark risk factor for AMD?
Drusen
104
In a Manhattan plot, what does the Y axis show?
the significance
105
In a Manhattan plot, what does the X axis show?
the position in the genome
106
Where is molecular data on computerised databases stores?
NCBI
107
What gives you information about inheritance patterns and genes?
OMIM
108
Cisplatin and PARP inhibitors work to
target the BRCA genes
109
NIPD can be used for what condition
Treacher Collins Syndrome
110
Gene therapy can be used for what condition
Leber's congenital amaurosis
111
What inheritance pattern does LCA have?
Autosomal recessive
112
The RPE65 gene is used as part of gene editing for what condition?
LCA
113
What is the rate limiting step in the conversion of Tamixofen to endomixfen?
CYP2D6
114
Androgenesis is when
there is only a male parent
115
Parthogenesis is when
there is only a female patient
116
Androgenesis and parthogenesis can both show as
46,XX
117
A hydatiform mole is androgenetic so shows
proliferation of abnormal trophoblast tissue
118
Parthogenesis presents as
benign ovarian teratomas
119
What embryo dies at the 6 somite stage?
Androgenetic ones as there is poor embryo development
120
Genomic imprints are found in what area of the DNA?
Epigenetic region
121
'Puppet children' and 'happy puppets' is a phrase used to describe children with what condition?
Angelman syndrome
122
Infantile hypotonia and hyperphagia can be seen in patients with what condition?
Prader-Willi syndrome
123
Prader-Willi shows cytogenetic abnormalities (deletion) in which chromosomes?
Male chromosomes on chromosome 15
124
A point mutation in the UBE3A gene accounts for 2-5% of cases of what condition?
Angelman syndrome
125
Is the IGF2 gene is switched off in maternal or paternal genes?
Maternal
126
In BWS, is there hypermethylation or hypomethylation? How does this affect IGF2?
Hypermethylation leading to increased IGF2
127
What syndrome leaves children with a 'triangular face' and growth retardation?
Russell silver syndrome
