Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22

被引：10

作者：

den Hollander, A

van der Velde-Visser, SD

Pinckers, AJLG

Hoyng, CB

Brunner, HG

Cremers, FPM

机构：

[1] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[2] Univ Nijmegen Hosp, Dept Ophthalmol, NL-6500 HB Nijmegen, Netherlands

来源：

HUMAN GENETICS | 1999年 / 104卷 / 01期

关键词：

D O I：

10.1007/s004390050912

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa, Linkage was found to the RP17 locus on chromosome 17q22, which was previously described in two South African families by Bardien et al. (1995, 1997). Assuming that the disease phenotypes in these families are caused by the same gene, the RP17 critical region is refined to a 7.7-cM interval between markers D17S1607 and D17S948. Two positional candidate genes, the retina-specific amine oxidase (RAO) gene (AOC2) and the cone transducin gamma gene (GNGT2), were excluded.

引用

页码：73 / 76

页数：4

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