intro to genetic diseases (MCT)

week 1 therapuetics

Gene

DNA sequence that encodes a functional RNA/protein product

locus

specific physical location of a gene on a chromosome

genome

complete set of DNA in organism, all genes incl

karyotype

no. and visual appearance of chromosomes in cell nucleus

haplotype

allele combination at multiple loci that are transmitted together 

no. of protein coding genes and RNA genes in human genome

human genome has ~20,000 protein-coding genes and ~6,000 RNA genes

c-value paradox

observation that the amount of DNA in a species' genome (the "C-value") does not correlate with its perceived biological complexity

• A higher C-value doesn't mean a more complex organism. 

c-value

total DNA content per haploid nucleus

G-value

no. of protein-coding genes; gene number

Gene regulation drives complexity rather than gene number (worms and humans have similar gene number count but vastly differ in complexity).

three ways variations can be

• Neutral (no phenotypic effect)

• Functional (affect phenotype)

• Pathogenic (cause disease)

most abundant genetic variant type

SNPs, in comparison to insertions/deletions, structural variants, and copy number variants