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一张具有厘摩密度的综合性人类连锁图谱。人类连锁合作中心(CHLC)。

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC).

作者信息

Murray J C, Buetow K H, Weber J L, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, Sheffield V C, Sunden S, Duyk G M

机构信息

Department of Pediatrics, University of Iowa, Iowa City 52245.

出版信息

Science. 1994 Sep 30;265(5181):2049-54. doi: 10.1126/science.8091227.

Abstract

In the last few years there have been rapid advances in developing genetic maps for humans, greatly enhancing our ability to localize and identify genes for inherited disorders. Through the collaborative efforts of three large groups generating microsatellite markers and the efforts of the 110 CEPH collaborators, a comprehensive human linkage map is presented here. It consists of 5840 loci, of which 970 are uniquely ordered, covering 4000 centimorgans on the sex-averaged map. Of these loci, 3617 are polymerase chain reaction-formatted short tandem repeat polymorphisms, and another 427 are genes. The map has markers at an average density of 0.7 centimorgan, providing a resource for ready transference to physical maps and achieving one of the first goals of the Human Genome Project--a comprehensive, high-density genetic map.

摘要

在过去几年里,人类基因图谱的绘制取得了迅速进展,极大地提高了我们定位和识别遗传性疾病相关基因的能力。通过三个生成微卫星标记的大型团队的合作努力以及110位CEPH合作者的工作,本文展示了一张全面的人类连锁图谱。它由5840个位点组成,其中970个位点顺序唯一,在性别平均图谱上覆盖4000厘摩。在这些位点中,3617个是聚合酶链反应格式的短串联重复多态性位点另外427个是基因。该图谱的标记平均密度为0.7厘摩,为向物理图谱的快速转移提供了资源,并实现了人类基因组计划的首要目标之一——一张全面、高密度的基因图谱。

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