Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q

被引：9

作者：

Mohamed, Z

Bell, C

Hammer, HM

Converse, CA

Esakowitz, L

Haites, NE

机构：

[1] UNIV GLASGOW,WESTERN INFIRM,TENNENT INST OPHTHALMOL,GLASGOW G11 6NT,LANARK,SCOTLAND

[2] UNIV STRATHCLYDE,DEPT PHARMACEUT SCI,GLASGOW G1 1XW,LANARK,SCOTLAND

[3] ROYAL ALEXANDRA HOSP CHILDREN,DEPT OPHTHALMOL,PAISLEY PA2 9FX,RENFREW,SCOTLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 08期

基金：

英国惠康基金;

关键词：

retinitis pigmentosa; chromosome; 7q; linkage studies;

D O I：

10.1136/jmg.33.8.714

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Retinitis pigmentosa is a group of hereditary retinopathies which is both clinically and genetically heterogeneous. Autosomal dominant (ADRP), autosomal recessive (ARRP), and X linked recessive (XLRP), as well as digenic forms of inheritance have been reported. ADRP has been linked to 3q, 6p, 7p, 7q, Been, 17p, 17q, and 19q. Three unrelated ADRP families have been reported to show linkage to 7q. We tested a Scottish ADRP family with a microsatellite markers mapping within the 7q31-q35 region, and found three markers (D7S487, D7S514, D7S530) showing statistically significant evidence of linkage. A maximum two point lod score of 3.311 at 0% recombination was obtained for D7S514.

引用

收藏

页码：714 / 715

页数：2

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