Diagnostics of congenital vas deferens obstruction (CAVD) and other mutations in exons 4, 10, 11, 12 and 21 - stage I - analysis of the 9 most common CFTR gene mutations

This study is related to the analysis of the most common mutations of the CFTR gene associated with congenital obstruction of the vas deferensów and other mutations in exons 4, 10, 11, 12 and 21 - stage I of CAVD diagnosis. The study includes the most common CFTR mutations associated with congenital obstruction of the vas deferensów (CAVD): p.Phe508del (F508del), c.54-5940_273+10250del21kb (dele2,3), c.1210-34TG[13]T[5], p.Arg117His (R117H), p.Arg553* (R553X), p.Gly551Asp (G551D), p.Gly542* (G542X), and p.Asp1152His (D1152H), as well as other mutations in exons 4, 10, 11, 12, and 21.

Gen CFen (CFen)

The CFTR gene encodes the production of a protein that forms chloride channels in the cell membrane thatóre producing mucus, sweat, saliva, tears and digestive enzymes. The transport of chloride ions helps control the movement of water in tissues, which is essential for the production of mucus, whichós protective of the respiratoryódr race, digestive system, reproductive system and other organsótissues. The CFTR protein also regulates the function of channelsóthatótransport sodium ions across cell membranes, which are essential for the proper functioning of organsósuch as the lungs and pancreas. Mutations in this gene cause cystic fibrosis, the most common fatal genetic disorder in Northern European populations. The most common mutation in cystic fibrosis, DeltaF508, causes abnormal folding and transport of the encoded protein.

Cytogenetic localization: 7q31.2.
Genomic coordinates (GRCh38): 7:117,478,366-117,668,664 (from NCBI).
Name of gene as recorded by HUGO Gene Nomenclature Committee (HGNC) on results. Mutation notation according to the Human Genome Variation Society (HGVS). Numbering of exonsóin accordance with HGMD reference sequence and GRCh38 genomic sequence:
LRG_663t
NG_016465.4
NM_000492.3
NP_000483.3