围绕11p13无虹膜基因座的长程限制酶切图谱。

Long-range restriction map around 11p13 aniridia locus.

作者信息

Davis L M, Everest A M, Simola K O, Shows T B

机构信息

Department of Human Genetics, Roswell Park Memorial Institute, Buffalo, New York 14263.

出版信息

Somat Cell Mol Genet. 1989 Nov;15(6):605-15. doi: 10.1007/BF01534921.

DOI:10.1007/BF01534921

PMID:2556802

Abstract

Using two random DNA markers, and pulsed field gel electrophoresis, a 1.5-Mb physical map surrounding the 11p13 aniridia locus (AN2) has been assembled. The map was constructed using a combination of single- and double-restriction digests on DNA from normal controls and a patient transmitting familial aniridia. The aniridia patient has a chromosome translocation and the two DNA markers flank the breakpoint. This 11p13 breakpoint lies no further than 100 kb from the DNA marker 1104 (D11S95), located on the centromeric side of the breakpoint. Two CpG islands, separated by 550 kb and flanking the translocation, suggest an upper limit to the size of the gene.

摘要

利用两个随机DNA标记和脉冲场凝胶电泳技术，构建了围绕11p13无虹膜基因座（AN2）的1.5兆碱基物理图谱。该图谱是通过对正常对照者和一名传递家族性无虹膜症的患者的DNA进行单酶切和双酶切相结合的方法构建而成。该无虹膜症患者存在染色体易位，两个DNA标记位于断点两侧。这个11p13断点距离位于断点着丝粒侧的DNA标记1104（D11S95）不超过100千碱基。两个CpG岛相隔550千碱基，位于易位两侧，提示了该基因大小的上限。