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美国妇产科医师学会技术评估第 11 号报告:遗传学及分子诊断检测。

ACOG Technology Assessment No. 11: Genetics and molecular diagnostic testing.

出版信息

Obstet Gynecol. 2014 Feb;123(2 Pt 1):394-413. doi: 10.1097/01.AOG.0000443280.91145.4f.

Abstract

Human genetics and molecular testing are playing an increasingly important role in medicine, including obstetric and gynecologic practice. As the genetic basis for reproductive disorders, common diseases, and cancer is elucidated with improved molecular technology, genetic testing opportunities are expanding and influencing treatment options and prevention strategies. It is essential that obstetrician-gynecologists be aware of advances in the understanding of genetic disease and the fundamental principles of genetic screening and molecular testing as genetics becomes a more integral part of routine medical practice. This document reviews the basics of genetic transmission and genetic technologies in current use.

摘要

人类遗传学和分子检测在医学领域,包括妇产科实践中发挥着越来越重要的作用。随着生殖障碍、常见疾病和癌症的遗传基础随着分子技术的提高而被阐明,遗传检测的机会正在扩大,并影响治疗选择和预防策略。妇产科医生必须了解遗传疾病的最新进展以及遗传筛查和分子检测的基本原则,因为遗传学已成为常规医疗实践的一个更重要的组成部分。本文回顾了当前使用的遗传传递和遗传技术的基础知识。

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