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子宫内膜异位症的遗传学

Genetics of Endometriosis.

作者信息

Krishnamoorthy Kavitha, Decherney Alan H

机构信息

*Department of Obstetrics/Gynecology, University of Miami/Jackson Health System, Miami, Florida †Reproductive Biology and Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development of the National Institutes of Health, Bethesda, Maryland.

出版信息

Clin Obstet Gynecol. 2017 Sep;60(3):531-538. doi: 10.1097/GRF.0000000000000293.

Abstract

Endometriosis is a complex, puzzling disease in women of reproductive age. The exact cause of the disease is unknown; however, different genetic and environmental factors contribute to the evolution of the disorder. Further investigation has led to the discovery of inheritance as a complex genetic trait. Candidate genes were identified to isolate regions of genes that affect disease risk. Additional linkage studies have been performed to map specific genes along the entire genome. Recent advances to determine the genetic component of endometriosis include genome-wide association studies. This chapter focuses on different approaches to identify the genetic links of endometriosis and its pathogenesis.

摘要

子宫内膜异位症是一种发生在育龄女性中的复杂且令人困惑的疾病。该疾病的确切病因尚不清楚;然而,不同的遗传和环境因素促成了这种病症的发展。进一步的研究已发现遗传是一种复杂的遗传特征。已鉴定出候选基因以分离影响疾病风险的基因区域。还进行了额外的连锁研究,以在整个基因组中绘制特定基因。确定子宫内膜异位症遗传成分的最新进展包括全基因组关联研究。本章重点介绍识别子宫内膜异位症的遗传联系及其发病机制的不同方法。

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