First Post!!!!

Welcome to 'Air on a G String/My Purest Heart for You' this blog contains quality A level notes compiled by me! :) All notes here are compiled using MJC school notes, other school notes and stuff plucked from the lovely internet. Please post feedback on cbox. Enjoy!

Since this is my first post I'll post notes on Cystic fibrosis.

Cystic fibrosis:

CF is inherited in autosomal recessive pattern, which means 2 copies of gene in each cell are altered. Mutations in chromosome 7, or more specifically mutations in CFTR (Cystic Fibrosis transmembrane conductance regulator) gene.

The CFTR gene provides instructions for making a channel that transports chloride ions into and out of cells. The flow of chloride ions helps control the movement of water in tissue and regulates the fluid consistency of mucus. Mutations in CFTR gene disrupt the normal function of this channel, preventing the usual flow of chloride ions and water. As a result, cells cells that line the passageways of lungs and pancreas and other organs produce mucus that is abnormally thick and sticky which obstructs the airways and glands. CF causes progressive damage to respiratory system and chronic digestive system. In people with CF, the abnormally thick and sticky mucus produced obstructs airways and causes chronic coughing,wheezing and inflammation. Over time, mucus build up and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Men with CF are often infrtile since tubes carrying sperm (the vans deferens) are blocked up by mucus and do not develop properly. Infertilty is less common in women with cystic fibrosis.

Key points about CF:

Homozygous recessive condition

2 carrier parents have a 1 in 4 chance at each conception of producing diseased offspring

Both are autosomal mutation

Multiple mutaions of chromosome 7