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