Cystic fibrosis genetics: from molecular understanding to clinical application

被引：673

作者：

Cutting, Garry R. ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

来源：

NATURE REVIEWS GENETICS | 2015年 / 16卷 / 01期

关键词：

TRANSMEMBRANE CONDUCTANCE REGULATOR; LUNG-DISEASE SEVERITY; PSEUDOMONAS-AERUGINOSA INFECTION; CONGENITAL BILATERAL ABSENCE; CFTR POTENTIATOR; NONSENSE MUTATIONS; MODIFIER GENES; SWEAT CHLORIDE; MESSENGER-RNA; CHRONIC RHINOSINUSITIS;

D O I：

10.1038/nrg3849

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.

引用

页码：45 / 56

页数：12

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