MRCP UK EXAMINATIONS

Detailed explanation-1: -The seventh pair of chromosomes has a gene called the CFTR (cystic fibrosis transmembrane regulator) gene. Changes (mutations) or errors in this gene are what cause CF. This gene is very large and complex. More than 1, 800 different mutations in this gene have been found that cause CF.

Detailed explanation-2: -The gene that causes problems in CF is found on the seventh chromosome. There are many mutations (abnormal genes) that have been shown to cause CF disease. Over 1000 mutations have been discovered, but there are about 30 that are common. The most common gene mutation is called deltaF508.

Detailed explanation-3: -The CFTR gene is located on the long arm (q) of chromosome 7 (7q31. 2). People with only one copy of the defective CF gene are called carriers. Carriers do not develop CF because they have a dominant gene that causes their CFTR protein to be handled correctly in the body.

Detailed explanation-4: -CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene is located on the long arm of human chromosome 7 at the q31.

Detailed explanation-5: -Abstract. The cystic fibrosis gene, located at 7q31, spans about 230 kb of genomic DNA and contains 27 exons.