✦ LIBER ✦

A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory

✍ Scribed by Jeff Wall; Shiping Cai; Farid F. Chehab

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 654 KB
Volume: 5
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380050411

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Arthur L. Beaudet

We devised a set of allele-specific probes to detect simultaneously 3 1 known cystic fibrosis mutations using PCR and the reverse dot blot detection format. The assay has been implemented in a clinical setting to the screening of over 750 individuals. Of these 102 Caucasians, 20 Hispanics and 1 Indian patient were affected with cystic fibrosis. The mutation detection rate in the 204 Caucasian and 40 Hispanic CF chromosomes was respectively, 88% and 85%. The availability of the probe sequences to CF screening laboratories should allow implementation of this assay in a clinical setting and comparison of its mutation typing rate among different centers.

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