Answer to Question #187833 in Molecular Biology for FAIZAN KHAN

Question #187833

3. Cystic fibrosis (cystic fibrosis of the pancreas) is the most common monogenic hereditary disease in the white race. The protein product of the gene, the cystic fibrosis transmembrane regulatory protein, CFTR, is a channel in the apical membranes of epithelial cells, through which chlorine ions are actively transported. According to the literature, the most major (diagnostically significant) mutations in CF patients are the following: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K. Determine the location of the CFTR gene and the following mutations: delF508, CFTRdel21kb, 2143delT, 3737delA, 2184insA, 394delTT, W1282X, G542X, N1303K in the human chromosome.

    - Complete tasks with:

  • Online Mendelian Inheritance in Man (OMIM)
  • Human Genome Mutation Database (HGMD)




 


1
Expert's answer
2021-05-06T05:32:36-0400

The CFTR gene chromosome 7


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