Mears A J, Mirzayans F, Gould D B, Pearce W G, Walter M A
Department of Ophthalmology, University of Alberta, Edmonton, Canada.
Am J Hum Genet. 1996 Dec;59(6):1321-7.
Autosomal dominant iridogoniodysgenesis anomaly (IGDA) is characterized by iris hypoplasia and goniodysgenesis with frequent juvenile glaucoma. IGDA is the result of aberrant migration or terminal induction of the neural crest cells involved in the formation of the anterior chamber of the eye. After eliminating candidate regions for other ocular disorders, a genome-wide scan for IGDA was performed using linkage analysis. Approximately 95% of the genome was excluded with >300 microsatellite markers before significant linkage was demonstrated between IGDA and chromosome 6 markers in two families. From haplotype analysis and identification of recombinants, the IGDA locus is mapped to an 8.3-cM interval distal to D6S477, at 6p25. Our linkage results are consistent with the ocular findings in rare cases of individuals with chromosomal anomalies involving deletions of 6p. This suggests that there is a major gene involved in eye anterior segment development at 6p25.
常染色体显性虹膜角膜内皮发育异常（IGDA）的特征是虹膜发育不全和前房角发育异常，并常伴有青少年型青光眼。IGDA是参与眼球前房形成的神经嵴细胞迁移异常或终末诱导的结果。在排除了其他眼部疾病的候选区域后，利用连锁分析对IGDA进行了全基因组扫描。在两个家系中，在IGDA与6号染色体标记之间显示出显著连锁之前，使用300多个微卫星标记排除了约95%的基因组区域。通过单倍型分析和重组体鉴定，IGDA基因座被定位到6p25上D6S477远端8.3厘摩的区间。我们的连锁分析结果与涉及6p缺失的染色体异常个体的罕见病例中的眼部表现一致。这表明在6p25存在一个参与眼球前段发育的主基因。
