斯洛伐克罗姆人（吉普赛人）常染色体隐性原发性先天性青光眼与GLC3A基因座的连锁关系。

Linkage of autosomal recessive primary congenital glaucoma to the GLC3A locus in Roms (Gypsies) from Slovakia.

作者信息

Plásilová M, Feráková E, Kádasi L, Poláková H, Gerinec A, Ott J, Ferák V

机构信息

Department of Molecular Biology, Comenius University, Bratislava, Slovakia.

出版信息

Hum Hered. 1998 Jan-Feb;48(1):30-3. doi: 10.1159/000022778.

DOI:10.1159/000022778

PMID:9463798

Abstract

The autosomal recessive form of primary congenital glaucoma (gene symbol GLC3) has been recently mapped to two different loci, GLC3A (at 2p21), and GLC3B (at 1p36), respectively, on families of Turkish and Saudi Arabian provenance. This disorder is known to occur with an extremely high incidence in Roms (Gypsies) in Slovakia. We performed a standard linkage analysis on a sample of 7 Slovak Gypsy families comprising 18 affected members, and found significant linkage with four STR markers from the chromosomal region of 2p21 (D2S1788, D2S1346, D2S2328, and D2S1356), without heterogeneity. This finding demonstrates that in the Rom population of Slovakia, primary congenital glaucoma is due to the locus GLC3A, and consequently, to the mutation(s) in the cytochrome P4501B1 gene, which has been recently identified as the principal cause of the disease. Roms represent the third population, in which the disorder has been mapped to GLC3A.

摘要

原发性先天性青光眼的常染色体隐性形式（基因符号GLC3）最近分别在土耳其和沙特阿拉伯血统的家族中被定位到两个不同的基因座，即GLC3A（位于2p21）和GLC3B（位于1p36）。已知这种疾病在斯洛伐克的罗姆人（吉普赛人）中发病率极高。我们对7个斯洛伐克罗姆人家庭的样本进行了标准连锁分析，该样本包含18名患病成员，发现与来自2p21染色体区域的四个STR标记（D2S1788、D2S1346、D2S2328和D2S1356）存在显著连锁，且无基因异质性。这一发现表明，在斯洛伐克的罗姆人群体中，原发性先天性青光眼是由基因座GLC3A引起的，因此是由细胞色素P4501B1基因中的突变导致的，该基因最近已被确定为该病的主要病因。罗姆人是第三个被确定该疾病与GLC3A相关的群体。