DNA ANALYSIS AND RECOMBINATION IN X-LINKED RETINITIS-PIGMENTOSA

被引：2

作者：

REDMOND, RM

GRAHAM, CA

CRAIG, IW

NEVIN, NC

ARCHER, DB

机构：

[1] QUEENS UNIV BELFAST,DEPT OPHTALMOL,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND

[2] QUEENS UNIV BELFAST,DEPT MED GENET,BELFAST BT7 1NN,ANTRIM,NORTH IRELAND

[3] UNIV OXFORD,DEPT BIOCHEM,GENET LAB,OXFORD,ENGLAND

来源：

EYE | 1990年 / 4卷

关键词：

D O I：

10.1038/eye.1990.27

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

X-linked retinitis pigmentosa is a hereditary retinal degenerative disorder which has been localised to the proximal short arm of the X chromosome. Recent evidence suggests that the disorder is heterogeneous with two possible loci for the disease mutation. DNA analysis on the family presented in this paper showed that the mutation mapped to the more telomeric locus (RP3), thus enabling two flanking polymorphic DNA probes (XJ1.1 and M27β) to be used for the detection of female carriers in the family. In none of the carriers was a tapetal reflex (metallic sheen) observed. © 1989, College of Ophthalmologists. All right reserved.

引用

页码：204 / 209

页数：6

共 12 条

[1] CLOSE GENETIC-LINKAGE BETWEEN X-LINKED RETINITIS PIGMENTOSA AND A RESTRICTION FRAGMENT LENGTH POLYMORPHISM IDENTIFIED BY RECOMBINANT DNA PROBE L1.28 [J].