| A 31-MUTATION ASSAY FOR CYSTIC-FIBROSIS TESTING IN THE CLINICAL MOLECULAR DIAGNOSTICS LABORATORY |
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| Author(s): WALL J, CAI SP, CHEHAB FF |
| Source: HUMAN MUTATION Volume: 5 Issue: 4 Pages: 333-338 Published: 1995 |
| Times Cited: 23 References: 12 |
| Abstract: We devised a set of allele specific probes to detect simultaneously 31 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. (C) 1995 Wiley-Liss, Inc. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF SAN FRANCISCO, DEPT LAB MED, DIV MOLEC DIAGNOST, SAN FRANCISCO, CA 94143 USA |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: QZ864 |
| ISSN: 1059-7794 |