Flashcards in Genetics Deck (13):
why is the central dogma (DNA synthesis) important to know about?
framework for treatment of genetic diseases
what is codon redundancy?
different codons can cause the same amino acid so if you have a mutation in a base its not likely to cause a mutation
NGS is better than sanger sequencing because...
allows sequencing of a much larger number of genes
what does aCGH detect?
a change in the amino acid sequence is always pathogenic T or F
F, isnt always
de novo mutations are highly likely to be pathogenic T or F
T (40% of childhood genetic disease is de novo)
worst location for mutations and worst type? why is this?
a deletion in the 3rd exon (will cause a frameshift)
what characteristic of a cancer cell changes its phenotype?
a synonymous mutation tends to be benign/malignant
carrier risk of CF if your sibling is affected?
risk of CF in a child with a carrier mum and normal risk dad
1 in 150
2/3 x 1/25 x 1/4
what drug works for G551D CF patients