Premium
Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island
Author(s) -
Bienvenu T.,
Bousquet S.,
Herbulot C.,
Cartault F.,
Kaplan J.C.,
Beldjord C.
Publication year - 1993
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380020411
Subject(s) - biology , exon , cystic fibrosis , polymerase chain reaction , genetics , mutation , gene , population , microbiology and biotechnology , medicine , environmental health
A rapid method for the diagnosis of the most frequent cystic fibrosis mutations in the Reunion Island is described based on a coamplification polymerase chain reaction (PCR) followed by a single digestion using MseI . We have used this strategy to detect the two most frequent mutations in this area: ΔF508 (in exon 10) and Y122X (in exon 4). These two mutations account for 70% of the CF chromosomes. This diagnosis method, which is rapid, easy, direct, and inexpensive, allows adult and neonatal carrier screening in this population. © 1993 Wiley‐Liss, Inc.