囊性纤维化的遗传学和基因组学。
The genetics and genomics of cystic fibrosis.
机构信息
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
出版信息
J Cyst Fibros. 2020 Mar;19 Suppl 1(Suppl 1):S5-S9. doi: 10.1016/j.jcf.2019.11.003. Epub 2019 Dec 23.
Abstract
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.
摘要
遗传学是生物学的一个分支，主要研究个体基因及其功能，而基因组学则涉及所有基因及其相互作用的分析。这两种方法都已广泛应用于 CF 的研究。CFTR 基因的鉴定开启了 CF 分子水平遗传学的研究。随后，在该基因中发现了数千种变体，其中一部分的功能后果已被详细研究。人类基因组的完成开启了一个新的研究阶段，在这个阶段，可以评估 CFTR 以外的基因在 CF 严重程度中的作用。本文将简要概述这些互补方法对我们理解 CF 发病机制的贡献。
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