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DNA变异与人类遗传学的未来。

DNA variation and the future of human genetics.

作者信息

Schafer A J, Hawkins J R

机构信息

Hexagen, Cambridge, UK.

出版信息

Nat Biotechnol. 1998 Jan;16(1):33-9. doi: 10.1038/nbt0198-33.

Abstract

The use of DNA variants in the mapping of the human genome and in the positional cloning of monogenic disease genes is well established. Determining the genetic bases of the more common "multifactorial" diseases, however, presents a major challenge. The genetics of these diseases are complicated by the interplay between many genes and the environment. These investigations will require large numbers of DNA markers and the technology to screen large populations with these markers. The systematic identification of the common DNA polymorphisms in the human genome coupled with the development of high throughput screening methods should allow ultimately the elucidation of the genetic component of most clinical and nonclinical phenotypes.

摘要

DNA变异体在人类基因组图谱绘制和单基因疾病基因的定位克隆中的应用已得到充分确立。然而,确定更常见的“多因素”疾病的遗传基础是一项重大挑战。这些疾病的遗传学因许多基因与环境之间的相互作用而变得复杂。这些研究将需要大量的DNA标记以及用这些标记筛选大群体的技术。人类基因组中常见DNA多态性的系统鉴定以及高通量筛选方法的发展最终应能阐明大多数临床和非临床表型的遗传成分。

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