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为智障人士及其家庭提供的基因服务。

Genetic services for people with intellectual disability and their families.

作者信息

Raymond F L

机构信息

Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, UK.

出版信息

J Intellect Disabil Res. 2003 Oct;47(Pt 7):509-14. doi: 10.1046/j.1365-2788.2003.00529.x.

Abstract

This paper reviews the advances in molecular genetics over the recent years and discusses the impact it may have on those with intellectual disability and their families. The aim is not to present a comprehensive scientific treatise but rather to use illustrations from genetics to highlight our current thinking and draw attention to areas of uncertainty and misinformation. As our knowledge and understanding of the genetic basis of disease increases over the years, there may be significant benefits to some families, but the potential for discrimination against individuals on genetic grounds will also increase.

摘要

本文回顾了近年来分子遗传学的进展,并讨论了其可能对智障人士及其家庭产生的影响。目的不是呈现一篇全面的科学论文,而是利用遗传学的实例来突出我们目前的思考,并提请注意存在不确定性和错误信息的领域。随着这些年来我们对疾病遗传基础的认识和理解不断增加,对一些家庭可能会有显著益处,但基于遗传理由歧视个体的可能性也会增加。

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