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一个跨越GLC1A的10厘摩酵母人工染色体连续克隆系,GLC1A是位于1q23 - q25的原发性开角型青光眼基因座。

A 10-cM YAC contig spanning GLC1A, the primary open-angle glaucoma locus at 1q23-q25.

作者信息

Clépet C, Dauwerse H J, Desmaze C, van Ommen G J, Weissenbach J, Morissette J

机构信息

Généthon, Evry, France.

出版信息

Eur J Hum Genet. 1996;4(5):250-9. doi: 10.1159/000472211.

Abstract

Primary open-angle glaucoma is a complex of ocular disorders characterized by irreversible lesions of the optic nerve, open angle of the anterior chamber of the eye and elevated intraocular pressures. GLC1A, a locus involved in one form of this disease, has been mapped to an approximately 9-cM interval within 1q23-q25, between markers D1S445 and D1S416/D1S480. A 10-cM yeast artificial chromosome (YAC) contig spanning the whole region is described. This contig is based on 67 YACs, and 41 sequence tagged sites comprising 23 genetic markers, 16 YAC ends and 2 expressed sequence tags. The reagents reported in this study should be useful tools for the identification of the GLC1A gene by positional cloning.

摘要

原发性开角型青光眼是一种眼部疾病综合征,其特征为视神经不可逆性病变、眼前房角开放和眼压升高。GLC1A是与该疾病的一种类型相关的一个基因座,已被定位到1q23 - q25区域内一个约9厘摩的区间,位于标记D1S445和D1S416/D1S480之间。本文描述了一个跨越整个区域的10厘摩酵母人工染色体(YAC)重叠群。该重叠群基于67个YAC以及41个序列标签位点,其中包括23个遗传标记、16个YAC末端和2个表达序列标签。本研究报道的试剂应为通过定位克隆鉴定GLC1A基因提供有用的工具。

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