Monogenic Diseases and Genotyping

Retinitis Pigmentosa

ionic lock on rhodopsin receptor proteins disrupted, receptor constantly active leading to death of rod cells and loss of sight

Phenylketonuria (PKU)

polar to non-polar amino acid change in phenylalanine hydroxylase enzyme causes misfolding and loss of function and build up of phenyalanine in body → brain damage

inheritance pattern of retinitis pigmentosa

dominant

inheritance pattern of phenylketonuria

recessive

what is PCR-RFLP method?

using restrictive enzymes,

what are fluoroscence methods?

probes containing different dyes attached to different alleles and release dye when DNA polymerase in PCR — clustering graphs of colour indicate genotype

what are genetic chips?

fluoroscence method that assess multiple variants at once

what does PCR-RFLP stand for?

Polymerase Chain Reaction - Restriction Fragment Length Polymorphism

advantages of PCR-FLP (4)

quick, simple, accessible, scalable

how does phenylketonuria

build up of phenylalanine cause production of phenylalanine ketones that are excreted in urine, giving urine a mousy odor.