Cystic fibrosis: typing 89 German families with linked DNA probes

✍ Scribed by J. Weber; C. Aulehla-Scholz; R. Kaiser; A. Eigel; M. Neugebauer; J. Horst; K. Olek

• Book ID: 104704074
• Publisher: Springer
• Year: 1988
• Tongue: English
• Weight: 216 KB
• Volume: 81
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00283729

✦ Synopsis

Three hundred and ninety-two subjects from 89 German families were typed for restriction fragment length polymorphisms (RFLPs) detected by the probes pmetH, pmetD, pJ3.11, KM19, and XV2c known to be tightly linked to the cystic fibrosis (CF) gene. The analysis of the predictive value of this typing in individual CF families indicates that the combined use of these probes provides a powerful diagnostic system for both carrier detection and prenatal diagnosis. In 45 families the complete haplotype including all RFLPs was available. Of them 41 (91.1%) were fully informative and 4 were partly informative.