CURRENT CONCEPTS IN GENETICS - CYSTIC-FIBROSIS

被引：17

作者：

BOWMAN, BH

MANGOS, JA

机构：

[1] UNIV TEXAS, MED BRANCH, DEPT HUMAN BIOL CHEM & GENET, GAVESTON, TX 77550 USA

[2] UNIV WISCONSIN, DEPT PEDIAT, MADISON, WI USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1976年 / 294卷 / 17期

关键词：

D O I：

10.1056/NEJM197604222941707

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Carriers of the gene leading to cystic fibrosis occur quite frequently in the Caucasian population; approximately 1 in 20 persons is heterozygous for cystic fibrosis. No clinical characteristics have been demonstrated that identify the heterozygote. Heterozygotes do not express the disease and generally do not know of their carrier state until they have children with cystic fibrosis. A major aim in research on cystic fibrosis is the development of a test that offers reliable detection of the heterozygote and of the fetus with cystic fibrosis.

引用

页码：937 / 938

页数：2