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人类X染色体短臂22区的高分辨率缺失图谱。

A high resolution deletion map of human chromosome Xp22.

作者信息

Schaefer L, Ferrero G B, Grillo A, Bassi M T, Roth E J, Wapenaar M C, van Ommen G J, Mohandas T K, Rocchi M, Zoghbi H Y, Ballabio A

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

Nat Genet. 1993 Jul;4(3):272-9. doi: 10.1038/ng0793-272.

Abstract

We have developed a 32-interval deletion panel for human chromosome Xp22 spanning about 30 megabases of genomic DNA. DNA samples from 50 patients with chromosomal rearrangements involving Xp22 were tested with 60 markers using a polymerase chain reaction strategy. The ensuing deletion map allowed us to confirm and refine the order of previously isolated and newly developed markers. Our mapping panel will provide the framework for mapping new sequences, for orienting chromosome walks in the region and for projects aimed at isolating genes responsible for diseases mapping to Xp22.

摘要

我们已经开发了一个用于人类Xp22染色体的32区间缺失图谱,其跨度约为30兆碱基的基因组DNA。使用聚合酶链反应策略,用60个标记对50例涉及Xp22染色体重排的患者的DNA样本进行了检测。随后得到的缺失图谱使我们能够确认并完善先前分离和新开发标记的顺序。我们的定位图谱将为新序列的定位、该区域染色体步移的定向以及旨在分离与定位到Xp22的疾病相关基因的项目提供框架。

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