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一幅含有4兆碱基唐氏综合征关键区域黏粒/细菌人工染色体重叠群的整合图谱。

An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region.

作者信息

Osoegawa K, Susukida R, Okano S, Kudoh J, Minoshima S, Shimizu N, de Jong P J, Groet J, Ives J, Lehrach H, Nizetic D, Soeda E

机构信息

Institute of Physical and Chemical Research, RIKEN Gene Bank, Tsukuba, Japan.

出版信息

Genomics. 1996 Mar 15;32(3):375-87. doi: 10.1006/geno.1996.0132.

Abstract

The major phenotypic features of Down syndrome have been correlated with partial trisomies of chromosome 21, allowing us to define the candidate gene region to a 4-Mb segment on the 21q22.2 band. We present here a high-resolution physical map with megabase-sized cosmid/PAC contigs. This ordered clone library has provided unique material for the integration of a variety of mappable objects, including exons, cDNAs, restriction sites, etc. Furthermore, our results have exemplified a strategy for the completion of the chromosome 21 map to sequencing.

摘要

唐氏综合征的主要表型特征已与21号染色体的部分三体相关联,这使我们能够将候选基因区域定位到21q22.2带上一个4兆碱基的片段。我们在此展示了一个具有兆碱基大小的黏粒/细菌人工染色体(BAC)重叠群的高分辨率物理图谱。这个有序的克隆文库为整合各种可定位的对象提供了独特的材料,包括外显子、互补DNA(cDNA)、限制性酶切位点等。此外,我们的结果例证了一种完成21号染色体图谱测序的策略。

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