HMB321 - lecture 12-end

The central Dogma

• DNA - transcription - RNA - translation - protein

• RNA - reverse transcription - DNA

• DNA - replication - DNA

Cystic fibrosis

• autosomal recessive inheritance

• if CFTR gene has abnormal mutation - abnormal mRNA - abnormal protein

CFTR mutation G551D

• missense mutation - aspartine instead of glycine

• protein reaches cell membrane normally but the chloride channel does not open properly - leading to impaired chloride transport and CFTR

CFTR mutation delta F508

• deletion mutation of phenylalanine - most common mutation

• defective CFTR protein produced in the cell - fails quality control and in ER and get degraded before reaching cm

delta F508 treatment - genotype treatment

Lumacaftor(increases protein trafficking) and Ivacaftor(opens it)

• increases trafficking of misfolded CFTR protein to cm and helps open it

G551D - genotype treatment

IVacaftor - helps CFTR channels stay open for longer, to help the correct amount of salt and water travel across the cell membrane

Molecular Genetic Techniques

• northern blot

• siuthern blot

• western blot

• RT-qPCR

Northern blot