日本青光眼患者中肌纤蛋白基因的新型突变

Novel mutations in the myocilin gene in Japanese glaucoma patients.

作者信息

Kubota R, Mashima Y, Ohtake Y, Tanino T, Kimura T, Hotta Y, Kanai A, Tokuoka S, Azuma I, Tanihara H, Inatani M, Inoue Y, Kudoh J, Oguchi Y, Shimizu N

机构信息

Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.

出版信息

Hum Mutat. 2000 Sep;16(3):270. doi: 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M.

DOI:10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M

PMID:10980537

Abstract

Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.

摘要

肌纤蛋白是一种与青少年型原发性开角型青光眼（POAG）相关的基因，定位于GLC1A位点，并且在全球范围内已报道了许多突变。不仅在青少年型POAG患者中发现了一些突变，在迟发型POAG患者和正常眼压性青光眼患者中也发现了一些突变。为了调查日本的突变患病率，我们对140名无亲缘关系的日本患者进行了突变分析。我们鉴定出了10个序列变异，其中4个很可能是致病突变（Arg46ter、Arg158Gln、Ile360Asn和Ala363Thr），6个是多态性（Gln19His、Arg76Lys、Asp208Glu、Val439Val、Arg470His和Ala488Ala）。因此，在4/140（2.9%）的先证者中发现了肌纤蛋白突变，这与之前其他种族人群的报道相似。