MUTATIONS OF THE CYSTIC-FIBROSIS GENE LOCUS WITHIN THE POPULATION OF THE NORTHWEST OF ENGLAND

被引：18

作者：

SUPER, M

SCHWARZ, MJ

机构：

[1] Paediatric Genetics Unit, Royal Manchester Children's Hospital, Manchester

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1992年 / 151卷 / 02期

关键词：

D O I：

10.1007/BF01958953

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diagnosis becomes possible in 84% of cases. Only 1.19% of cases negative for the nine mutations have CF. The results of molecular analysis in this population have useful implications in respect of diagnosis validation and population carrier screening.

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页码：108 / 111

页数：4

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