Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

被引:11
作者
Graff, C [1 ]
Jerndal, T [1 ]
Wadelius, C [1 ]
机构
[1] GLAUCOMA UNIT,S-41134 GOTHENBURG,SWEDEN
关键词
D O I
10.1007/s004390050601
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Glaucoma is a group of ocular disorders leading to reduced visual capabilities and sometimes blindness. The biochemical defect is unknown but it is shown that reduced drainage of the aqueous humour from the anterior chamber may lead to increased introcular pressure and gradual atrophy of the optic neurons. Families with various forms of autosomal dominant (AD) glaucoma have been linked to 1q21-31, 2cen-q13, 4q25-27, and 13q14 and autosomal recessive congenital glaucoma have been localized to chromosome 1p36 and 2p21, Recently, a locus for AD iridogoniodysgenesis anomaly (IGDA)was mapped to chromosome 6p25. This study refines the localization of IGDA to an approximately 6-cM interval between D6S1600 and D6S 1617/D6S1713 at 6p25-teI, based on recombinations in affected individuals with AD juvenile-onset glaucoma and concomitant iridogoniodysgenesis.
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页码:130 / 134
页数:5
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