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对囊性纤维化进行全民社区携带者筛查?

Universal community carrier screening for cystic fibrosis?

作者信息

Williamson R

机构信息

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College, London, UK.

出版信息

Nat Genet. 1993 Mar;3(3):195-201. doi: 10.1038/ng0393-195.

Abstract

Approximately 5% of the Caucasian North European and North American populations are carriers of the gene defect causing cystic fibrosis (CF). Since the CF gene was isolated in 1989 and the common mutations identified, there has been debate as to whether community-wide screening for CF carriers should be offered. Pilot studies and new discussions are leading to a consensus that screening is now possible and will not lead to undue anxiety, but there is still no agreement as to cost, or how it will be used by those screening positive.

摘要

大约5%的北欧白种人和北美人群是导致囊性纤维化(CF)的基因缺陷携带者。自1989年CF基因被分离出来并确定了常见突变以来,关于是否应该在社区范围内对CF携带者进行筛查一直存在争议。试点研究和新的讨论正达成一种共识,即现在筛查已可行且不会导致过度焦虑,但在成本以及筛查呈阳性者如何使用筛查结果方面仍未达成一致。

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