A locus for isolated cataract on human Xp
A locus for isolated cataract on human Xp
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DOI：
10.1136/jmg.39.2.105
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发表时间：
2002-02-01
影响因子：
4
通讯作者：
Bhattacharya, SS
中科院分区：
文献类型：
--
作者：
Francis, PJ;Berry, V;Bhattacharya, SS
目的：要遗传地图的基因引起孤立的X连锁白内障在一个大的欧洲pedigree.Methods：使用患者登记在伯明翰妇女医院，英国，我们确定和检查了23个成员的四代家庭与核性白内障。六名受影响的男性中有四名患有复杂的先天性心脏病。收集家系资料，从静脉血中提取白细胞DNA。结果：该位点位于Xp 22染色体上，与DXS 9902和DXS 999连锁，连锁间隔为3cM（DXS 8036在θ =0时的Zmax=3.64）。结论：这是在X染色体上首次报道的一个孤立性遗传性白内障的基因座。疾病间隔位于Nance-Horan基因座内，表明等位基因异质性。与先天性心脏异常的明显联系表明可能存在一种新的眼心综合征。
Purpose: To genetically map the gene causing isolated X linked cataract in a large European pedigree.Methods: Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation family with nuclear cataract. Four of six affected males also had complex congenital heart disease. Pedigree data were collated and leucocyte DNA extracted from venous blood. Linkage analysis by PCR based microsatellite marker genotyping was used to identify the disease locus and mutations within candidate genes screened by direct sequencing.Results: The disease locus was genetically refined to chromosome Xp22, within a 3 cM linkage interval flanked by markers DXS9902 and DXS999 (Zmax=3.64 at theta=0 for marker DXS8036).Conclusions: This is the first report of a locus for isolated inherited cataract on the X chromosome. The disease interval lies within the Nance-Horan locus suggesting allelic heterogeneity. The apparent association with congenital cardiac anomalies suggests a possible new oculocardiac syndrome.