Genetics Flashcards
Male vs female complement?
46 XY vs 46 XX
2 meanings of polymorphism?
Genetic variation with population frequency >1% or variation that does not cause disease but predisposes it
What is aneuploidy and how the body overcomes it?
Whole extra/missing chromosome and X inactivation
Robertsonian translocations are an example of + mechanism + example + what is causes?
Unbalanced translocation + a chromosome attaches to the end of another chromosome +21 becomes attached to chromosome 14 in the mother so the baby inherits 3 chromosome 21s + Down’s syndrome (trisomy 21)
Test for small chromosome segment?
PCR
First line test for unbalanced chromosome segment?
aCGH
Test for breast cancer + how it works?
HER2 FISH + DNA probe with fluorescent stain attaches to target chromosome
Central dogma?
Transcription + translation
Penetrance?
Chance you get the disease if you have the gene
Mendelian inheritance?
Disease with high penetrance passed through family lines
CD-CV hypothesis?
Common disease-causing alleles will be found in all human populations
C. = ?
Effect on base sequence
P. = ?
Effect on amino acid sequence
+2T> A?
T changes to A 2 bases into intron
Ter or * in nomenclature?
Premature stop codon
Fs in nomenclature?
Frameshift
Trisomy 21?
Down’s syndrome
Trisomy 18?
Edwards syndrome
Maternal deletion on chromosome 15?
Angelman syndrome
Paternal deletion on chromosome 15?
Prader-Willi syndrome
Turner’s syndrome complement?
45 X
Klinefelter’s syndrome complement?
47 XXY
Key point about genetic testing with aCGH?
Only detects imbalance/ does not detect rearrangements
Explain mosaicism?
Cells in the body having different small mutations in them
