一个靠近Xq27 - q28上脆性位点FRAXA的新的限制性片段长度多态性（RFLP）标记RN1（DXS369）的定位。

Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28.

作者信息

Oostra B A, Majoor-Krakauer D F, van Hemel J O, Bakker E, Callen D F, Schmidt M, van Oost B A

机构信息

Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands.

出版信息

Am J Med Genet. 1991 Feb-Mar;38(2-3):332-5. doi: 10.1002/ajmg.1320380233.

DOI:10.1002/ajmg.1320380233

PMID:1673306

Abstract

A new polymorphic DNA marker RN1, defining locus DXS369, was recently isolated. Using different somatic cell hybrids, RN1 was mapped between markers 4D-8 and U6.2. We have narrowed the localization of RN1 to the region between 4D-8 and FRAXA by genetic mapping in fragile X [fra(X)] families. Combined with information from other reports, the following order of loci on Xq27-q28 is suggested: cen-F9-(DXS105-DXS152)-DXS98-DXS369-FRAXA- DXS304-(DXS52-DXS15-F8)-tel. The locus DXS369 is closely linked to FRAXA, with a peak lodscore of 18.5 at a recombination fraction of 0.05. Therefore, RN1 is a useful probe for carrier detection and prenatal diagnosis in fra(X) families.

摘要

一种新的多态性DNA标记RN1，它定义了DXS369位点，最近已被分离出来。利用不同的体细胞杂种，RN1被定位在标记4D - 8和U6.2之间。通过在脆性X [fra(X)]家系中的基因定位，我们已将RN1的定位范围缩小到4D - 8和FRAXA之间的区域。结合其他报告的信息，建议Xq27 - q28上各基因座的顺序如下：着丝粒 - F9 - (DXS105 - DXS152) - DXS98 - DXS369 - FRAXA - DXS304 - (DXS52 - DXS15 - F8) - 端粒。DXS369位点与FRAXA紧密连锁，在重组率为0.05时，最大优势对数得分为18.5。因此，RN1是fra(X)家系中携带者检测和产前诊断的有用探针。