21号染色体上唐氏综合征区域250万个碱基对的高分辨率物理图谱。

A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21.

作者信息

Patil N, Peterson A, Rothman A, de Jong P J, Myers R M, Cox D R

机构信息

Department of Genetics, Stanford University School of Medicine, CA 94305-5120.

出版信息

Hum Mol Genet. 1994 Oct;3(10):1811-7. doi: 10.1093/hmg/3.10.1811.

DOI:10.1093/hmg/3.10.1811

PMID:7849705

Abstract

The region surrounding D21S55 in band 21q22 of human chromosome 21 has been implicated in the etiology of Down syndrome (DS). In this paper, we report the construction of a high resolution map of a 2.5 Mb region around the marker D21S55. Characterization of YAC clones by accurate size determination, end isolation and marker assignment was used to build a refined YAC-based map. The YAC clones were then used to isolate 284 cosmid clones, covering 2.3 Mb, from a chromosome 21-specific cosmid library. The cosmid clones were ordered into overlapping groups and a restriction map of each group was determined. The groups of cosmids were then ordered and oriented with respect to the YAC-based map. This high resolution map provides the framework for further analysis of the region by transcribed sequence mapping and sequence determination.

摘要

人类21号染色体21q22区域中围绕D21S55的区域已被认为与唐氏综合征（DS）的病因有关。在本文中，我们报告了围绕标记D21S55构建的一个2.5 Mb区域的高分辨率图谱。通过精确的大小测定、末端分离和标记定位对酵母人工染色体（YAC）克隆进行表征，以构建一个精细的基于YAC的图谱。然后利用这些YAC克隆从一个21号染色体特异性黏粒文库中分离出284个黏粒克隆，覆盖2.3 Mb。这些黏粒克隆被排列成重叠群，并确定了每个群的限制性图谱。然后将这些黏粒群相对于基于YAC的图谱进行排序和定向。这个高分辨率图谱为通过转录序列定位和序列测定对该区域进行进一步分析提供了框架。