Studiul polimorfismului clinic şi genotipic la pacienţii cu mucoviscidoză din Republica Moldova

Rezumat

We carried out the molecular diagnosis of 78 Cystic Fibrosis patients aged from 2 month to 24 years (32 female and 46 male) and their parents. Were identifi ed the following mutations – F508del – in 57,7%, R334W (ex.7) – în 3,8% and N1303K – în 1,3% of cases. Connection was determined between F508del mutation and the severity of clinical manifestation in CF. It is shown that mutation remain unidentifi ed in 37,2% of cases in RM. Advisability of the improvement of CF molecular diagnosis metods is well – founded in Republic of Moldova.