通过连锁分析将先天性扁平角膜基因定位于12号染色体长臂。

Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.

作者信息

Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P, de la Chapelle A

机构信息

Department of Medical Genetics, University of Helsinki, Finland.

出版信息

Genomics. 1995 Mar 20;26(2):290-3. doi: 10.1016/0888-7543(95)80213-6.

DOI:10.1016/0888-7543(95)80213-6

PMID:7601455

Abstract

We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease.

摘要

我们通过连锁分析报告了常染色体隐性先天性扁平角膜（CNA2；MIM 217300）基因座定位于标记D12S82和D12S327之间约10厘摩的区间。这里研究的隐性遗传疾病比显性形式更为严重。其主要表现为角膜曲率降低、角膜缘模糊、角膜基质混浊以及早年出现明显的角膜弓。我们的结果为CNA2的定位克隆和该疾病发病机制的阐明提供了一个起点。