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Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.

作者信息

Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan J C, Beldjord C

机构信息

Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.

出版信息

Hum Mutat. 1993;2(4):306-8. doi: 10.1002/humu.1380020411.

DOI:10.1002/humu.1380020411
PMID:7691353
Abstract

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: delta F508 (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.

摘要

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