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Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.

Abstract：

:The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation, delta F508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequences of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A---> T). Each has only been found once in this sample of CF patients.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Férec C,Novelli G,Verlingue C,Quéré I,Dallapiccola B,Audrézet MP,Mercier B

doi

10.1016/s0890-8508(95)80038-7

subject

Has Abstract

pub_date

1995-04-01 00:00:00

pages

135-7

issue

2

eissn

0890-8508

issn

1096-1194

journal_volume

9

pub_type

杂志文章

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