常染色体显性先天性缝合状白内障家系致病基因的定位

Mapping of a pedigree with autosomal dominant inherited congenital sutural cataract

目的对我国一常染色体显性先天性缝合状白内障家系进行致病基因的定位。方法采集家系成员外周静脉血提取基因组 DNA。选用美国 Applied Biosystems 公司提供的约400个遗传标记物进行基因扫描。数据经 Linkage 软件包进行连锁分析,初步确定致病基因所在染色体区域。在阳性区域内选取更高密度的荧光标记物进行精细扫描,用 Cyrillic 软件进行单体型分析。结果两点间连锁分析在 D3S1279处获得最大对数优势记分(LOD)值 Z_(max)=2.32(θ_(max)=0.00)。通过精细扫描和单体型分析将致病基因定位于 D3S1267和 D3S1614之间约38.6厘摩(cM)区域内。结论先天性缝合状白内障家系的致病基因位于3号染色体3q21.1-q26.2约38.6cM 区域内。(中华眼科杂志,2006,42:908-912)

Objective To map the gene responsible for autosomal dominant congenital sutural cataract of a Chinese family. Methods Peripheral blood samples were collected from the members in a family with autosomal dominant congenital sutural cataract. The genomie DNA was extracted from the blood samples. A genesean was performed using approximately 400 mierosatellite markers （ABI）. Linkage analysis was processed by Linkage software package to define the location of mutation gene. High density primers labeled with fluorescent stain for the positive region were adopted for fine targeting, and haplotype analysis was processed using Cyrillic software. Results The maximum two-point LOD scores was obtained at D3S1279, Zmax = 2.32 （θmax =0.00）. After fine targeting and haplotype analysis, the gene was located within a 38.6 cM region between D3S1267 and D3S1614. Conclusion The gene responsible for congenital sutural cataract in a Chinese pedigree is located at chromosome 3q21.1-q6.2 within a 38.6 cM region. （Chin J Ophthalmol , 2006,42：908-912 ）