通过辐射杂种图谱法和脉冲场凝胶电泳构建的人类21号染色体长臂远端区域图谱。

A map of the distal region of the long arm of human chromosome 21 constructed by radiation hybrid mapping and pulsed-field gel electrophoresis.

作者信息

Burmeister M, Kim S, Price E R, de Lange T, Tantravahi U, Myers R M, Cox D R

机构信息

Department of Physiology, University of California, San Francisco 94143.

出版信息

Genomics. 1991 Jan;9(1):19-30. doi: 10.1016/0888-7543(91)90216-2.

DOI:10.1016/0888-7543(91)90216-2

PMID:2004760

Abstract

We have used radiation hybrid (RH) mapping and pulsed-field gel electrophoresis (PFGE) to determine the order and positions of 28 DNA markers from the distal region of the long arm of human chromosome 21. The maps generated by these two methods are in good agreement. This study, combined with that of D. R. Cox et al. (1990, Science 250:245-250), results in an RH map that covers the long arm of chromosome 21 (21q). We have used a subtelomeric probe to show that our map includes the telomere and have identified single-copy genes and markers within 200 kbp of the telomere. Comparison of the physical and RH maps with genetic linkage maps shows "hot spots" of meiotic recombination in the distal region, one of which is close to the telomere, in agreement with previous cytogenetic observations of increased recombination frequency near telomeres.

摘要

我们利用辐射杂种（RH）作图和脉冲场凝胶电泳（PFGE）来确定来自人类21号染色体长臂远端区域的28个DNA标记的顺序和位置。通过这两种方法生成的图谱吻合度很高。这项研究与D. R. 考克斯等人（1990年，《科学》250:245 - 250）的研究相结合，得到了一张覆盖21号染色体长臂（21q）的RH图谱。我们使用了一个亚端粒探针来表明我们的图谱包含端粒，并在端粒的200千碱基对范围内鉴定出了单拷贝基因和标记。将物理图谱和RH图谱与遗传连锁图谱进行比较，结果显示在远端区域存在减数分裂重组的“热点”，其中一个靠近端粒，这与之前关于端粒附近重组频率增加的细胞遗传学观察结果一致。