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花冠状常染色体显性遗传性先天性白内障致病基因初步定位 被引量：1

Gene mapping of coronary autosomal dominant congenital cataract
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摘要 目的初步定位具有花冠状表型的常染色体显性遗传性先天性白内障一家系的致病基因。方法收集家系成员的资料,提取基因组DNA,据文献报道在已知先天性白内障致病基因和位点附近,选择合适的短串联重复序列多态性标记,使用LINKAGE5.1软件计算标准LOD值,对此家系进行连锁分析。结果此表型先天性白内障的致病基因定位在3q22.3-q25.2,即D3S3612至D3S1594之间15.2 cM范围内。在D3S1569和D3S3599处,得到与致病基因位点连锁的最大LOD值均为3.01(重组率=0.00)。结论该花冠状常染色体显性遗传性先天性白内障致病基因初步定位在第3对染色体上3q22.3-q25.2。 Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts（ADCC）. Methods A family with coronary ADCC was identified and characterized. Linkage analysis was carried out using short tandem repeat polymorphism （STRP） in close proximity to genes and loci previously reported involving in human cataract. And linkage was assessed using standard LOD score analysis. Results The virulence gene of con- genital cataracts was mapped to 15.2cM region on chromosome 3q22.3-q25.2 between markers D3S3612 and D3S1594 ,with a maximum multipoint LOD score of 3.01 at D3S1569 and D3S3599（recombination fraction = 0.00）. Conclusion The most recent locus of virulence gene is on chromosome 3q22.3-q25.2 in a family with coronary autosomal dominant congenital cataracts. Rec Adv Ophthalmol 2008 ; 28 （ 8 ） ： 565-568 ]
作者 谷静芝 阮燕飞 李响 金怡轩 阎伟刚 曹文萍
机构地区 哈尔滨医科大学附属第二医院眼科 内蒙古赤峰市第二医院眼科 哈尔滨医科大学附属第三医院 哈尔滨医科大学附属第一医院眼科
出处 《眼科新进展》 CAS 2008年第8期565-568,共4页 Recent Advances in Ophthalmology
基金 哈尔滨科技创新基金资助(编号:2006RFQXS087)~~
关键词 花冠状表型 先天性白内障 连锁分析 染色体 coronary congenital cataract linkage analysis chromosomes
分类号 R775.4 [医药卫生—眼科]
  • 相关文献

参考文献28

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共引文献2

同被引文献12

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眼科新进展
2008年 第8期

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