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21世纪的基因携带者筛查

Genetic Carrier Screening in the Twenty-first Century.

作者信息

Yao Ruofan, Goetzinger Katherine R

机构信息

Department of Obstetrics, Gynecology and Reproductive Medicine, University of Maryland School of Medicine, 22 S Greene Street, Baltimore, MD 21201, USA.

Department of Obstetrics, Gynecology and Reproductive Medicine, University of Maryland School of Medicine, 22 S Greene Street, Baltimore, MD 21201, USA.

出版信息

Clin Lab Med. 2016 Jun;36(2):277-88. doi: 10.1016/j.cll.2016.01.003. Epub 2016 Mar 5.

Abstract

Historically, carrier screening for a small number of autosomal recessive disorders has been offered to targeted populations based on ethnicity and family history. These chosen disorders are associated with severe morbidity or mortality, have a well-established carrier frequency in the targeted population, and have an acceptably high detection rate to make screening efficient. With advancing genetic technology, expanded panels rapidly are being designed and offered to the panethnic general population. This article reviews current recommendations for ethnicity-specific carrier screening for common disorders as well as the limitations and counseling complexities associated with expanded panels.

摘要

从历史上看,基于种族和家族史,已针对特定人群开展了少数常染色体隐性疾病的携带者筛查。这些选定的疾病与严重的发病率或死亡率相关,在目标人群中具有既定的携带者频率,并且具有可接受的高检出率以使筛查有效。随着基因技术的进步,正在迅速设计扩展检测组合并提供给泛种族普通人群。本文综述了针对常见疾病进行种族特异性携带者筛查的当前建议,以及与扩展检测组合相关的局限性和咨询复杂性。

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