The genetics and genomics of cystic fibrosis

被引：22

作者：

Sharma, N. ^{[1
]}

Cutting, G. R. ^{[1
]}

机构：

[1] Johns Hopkins Univ, Dept Genet Med, Sch Med, Baltimore, MD 21218 USA

来源：

JOURNAL OF CYSTIC FIBROSIS | 2020年 / 19卷

关键词：

Cystic fibrosis; CFTR; Genetic modifiers; Linkage; Association; LUNG-DISEASE SEVERITY; IDENTIFICATION; MODIFIERS; THERAPIES; MUTATION; SUSCEPTIBILITY; INDIVIDUALS; VARIANTS; GENOTYPE; ALLELE;

D O I：

10.1016/j.jcf.2019.11.003

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Genetics is the branch of biology concerned with study of individual genes and how they work whereas genomics is involved with the analysis of all genes and their interactions. Both of these approaches have been applied extensively to CF. Identification of the CFTR gene initiated the dissection of CF genetics at the molecular level. Subsequently, thousands of variants were found in the gene and the functional consequences of a subset have been studied in detail. The completion of the human genome ushered in a new phase of study where the role of genes beyond CFTR could be evaluated for their contribution to the severity of CF. This will be a brief overview of the contribution of these complementary methods to our understanding of CF pathogenesis. (C) 2019 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：S5 / S9

页数：5

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