[一个常染色体显性遗传性视网膜色素变性中国家系已知位点的致病基因筛查]
[Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa].
作者信息
Liu Wei, Lu Fang, Qia Li-feng, Sha Zhi-quan, Liu Xia-oqi, Ma Shi, Tang Xin, Chang Jin-xia, Yang Zheng-lin, Ye Bin
机构信息
Department of Pathobiology, Chongqing Medical University, Chongqing, 400016 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):70-3. doi: 10.3760/cma.j.issn.1003-9406.2009.01.016.
OBJECTIVE
To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.
METHODS
Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.
RESULTS
The Lod score of each marker vs adRP was below 1.
CONCLUSION
The phenotype of this family may not be caused by mutation of the known disease-causing genes.
目的
定位一个常染色体显性遗传性视网膜色素变性中国家系的致病基因。
方法
从致病基因已知位点周围区域随机选择27个微卫星标记，采用ABI3100基因分析仪确定单倍型。使用MLINK进行两点连锁分析。
结果
每个标记与常染色体显性遗传性视网膜色素变性的连锁分析优势对数计分（Lod score）均低于1。
结论
该家系的表型可能并非由已知致病基因突变所致。
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