Crosswords Flashcards
Missense mutation
change in one DNA base pair that results in the substitution of one amino acid for another
Nonsense mutation
Change in one DNA base pair that results in a stop codon
Example of an interspersed repeat
Alu
Satellite DNA is found at the
centromere
Frameshift mutation
Insertion or deletion results in change in the reading frame of codons - can have drastic effects
Number of H bonds between C and G base pairs
3
What is CNV
Copy Number Variation. Usually have 2 copies of gene but number can vary e.g. 1 copy, 3 copies
Language acquisition in humans is as a consequence of variation in this gene
FOXP2
Type of receptor enriched for CNVs
Olfactory
TP53 is an example of a
Tumour supressor gene
Robertsonian transactions occur between which type of chrommosomes
Acrocentric - centromere severely offset from middle, producing one very long and one very short arm
NIPT
Non-invasive prenatal testing
Syndrome caused by mutations in PTEN
Cowden
This gland can be abnormal in 22q11.2 deletion (DiGeorge)
Thyroid
Beckwith Weidemann syndrome is associated with malignancies in
Kidney
Sensory impairment seen in Treacher-Collins
Hearing
Syndrome associated with Hirschprung’s
Waardenburg
Abdomen abnormality associated with Beckwith Wiedemann
Exomphalos
Electrolyte abnormality seen in 22q11.2
Hypocalcaemia
Variation at this locus affects age of disease onset in Alzheimer’s
APOE
UPD for the ____ chr15 results in PWS
Maternal
CpG islands are typically
unmethylated
IGF2 gene is expressed on which parental chromosome 11?
Paternal
Frequency of CG dinucleotides compared to other dinucleotides
Reduced
Reproduction without fertilisation
Parthenogenesis
What is DNMT?
DNA methytransferase
Modifications that do not alter the underlying DNA sequence are
Epigenetic
What type of conception is a complete hydatidiform mole?
Androgenetic
What is imprinting?
Parent-of-origin specific mono allelic expression
Paternally derived genes are necessary for the development of the
trophoblast
Materally derived genes are essential for the development of the
embryo
What happens to parental imprints during gametogenesis?
Reset
Cause of angelman syndrome
Uniparental disomy of paternal chromosome 15
Patients with BRAF mutations may benefit from treatment with this agent
Vemurafenib
SNP variation in TPMT gene causes what in relation to drugs?
Variation in toxicity
Drug which has shown benefit to patients with CFTR G551D variant
Ivacaftor
