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人类11号染色体的高分辨率综合物理、细胞遗传学和基因图谱:从远端p13到近端p15.1。

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

作者信息

Fantes J A, Oghene K, Boyle S, Danes S, Fletcher J M, Bruford E A, Williamson K, Seawright A, Schedl A, Hanson I

机构信息

MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland.

出版信息

Genomics. 1995 Jan 20;25(2):447-61. doi: 10.1016/0888-7543(95)80045-n.

Abstract

We describe a detailed physical map of human chromosome 11, extending from the distal part of p13 through the entirety of p14 to proximal p15.1. The primary level of mapping is based on chromosome breakpoints that divide the region into 20 intervals. At higher resolution YACs cover approximately 12 Mb of the region, and in many places overlapping cosmids are ordered in contiguous arrays. The map incorporates 18 known genes, including precise localization of the GTF2H1 gene encoding the 62-kDa subunit of TFIIH. We have also localized four expressed sequences of unknown function. The physical map incorporates genetic markers that allow relationships between physical and genetic distance to be examined, and similarly includes markers from a radiation hybrid map of 11. The cytogenetic location of cosmids has been examined on high-resolution banded chromosomes by fluorescence in situ hybridization, and FLpter values have been determined. The map therefore fully integrates physical, genic, genetic, and cytogenetic information and should provide a robust framework for the rapid and accurate assignment of new markers at a high level of resolution in this region of 11p.

摘要

我们描述了人类11号染色体的详细物理图谱,该图谱从p13的远端延伸至整个p14,直至近端的p15.1。图谱构建的主要层次基于将该区域划分为20个区间的染色体断点。在更高分辨率下,酵母人工染色体(YAC)覆盖该区域约12兆碱基对(Mb),并且在许多地方,重叠的黏粒按连续阵列排列。该图谱纳入了18个已知基因,包括编码TFIIH 62千道尔顿亚基的GTF2H1基因的精确定位。我们还定位了四个功能未知的表达序列。该物理图谱纳入了可用于研究物理距离与遗传距离之间关系的遗传标记,同样也包括来自11号染色体辐射杂种图谱的标记。通过荧光原位杂交在高分辨率带型染色体上检测了黏粒的细胞遗传学定位,并确定了从p端粒(FLpter)值。因此,该图谱全面整合了物理、基因、遗传和细胞遗传学信息,应为在11p这一区域以高分辨率快速准确地定位新标记提供一个坚实的框架。

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