在一个法国家族中，1号染色体上青少年型和早发型开角型青光眼基因座（GLC1A）的年龄依赖性外显率及定位研究
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.
作者信息
Meyer A, Béchetoille A, Valtot F, Dupont de Dinechin S, Adam M F, Belmouden A, Brézin A P, Gomez L, Bach J F, Garchon H J
机构信息
INSERM U25, Hôpital Necker, Paris, France.
出版信息
Hum Genet. 1996 Nov;98(5):567-71. doi: 10.1007/s004390050260.
The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.
常染色体显性遗传性青少年型（20岁之前）原发性开角型青光眼（POAG）的GLC1A基因座已被定位于1号染色体的1q21-q31区域。最近，有一个法裔加拿大家庭被报道，该家庭中既有青少年型POAG患者，也有中年或早发型POAG患者，并且这些病例都与GLC1A基因座相关联。我们现在描述第二个POAG家族，其发病年龄各不相同（范围为11至51岁，中位年龄为36岁）。在D1S452基因座处，与GLC1A的连锁分析获得了最高为6.21的对数优势分数（lod score），从而确立了两者的连锁关系。一名重度青光眼患者的重组事件将GLC1A区间的远端边界限定在AFM154xc9标记近端。这项研究进一步证实了早发型POAG也可能由GLC1A基因区域所决定这一观点。
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