[一个常染色体显性高度近视家族的连锁分析]
[Linkage analysis of one family with autosomal dominant high myopia].
作者信息
Chang Jin-xia, Zhang Ding-ding, Lin Yin, Liu Bing, Lu Fang, Tang Xin, Yang Yang, Chen Bin, Zhang Chong-jie, Yang Zheng-lin
机构信息
Department of Immunology, West China Medical Center, Sichuan University, Chengdu, Sichuan, 610041 People's Republic of China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Aug;25(4):424-6.
OBJECTIVE
To map the high myopia gene in a Chinese family with autosomal dominant high myopia.
METHODS
A family with autosomal dominant high myopia in three generations was collected. Eighteen short-tandem-repeat markers on previously reported loci linked to high myopia were chosen for genotyping and two-point linkage analysis was carried out.
RESULTS
The spherical equivalent of affected individuals ranges from -6.00D to -20.00D and the genetic pattern is autosomal dominant. The LOD score was less than -1 in all 18 microsatellite markers, indicating that there was no linkage between these markers and the high myopia related genes in this family.
CONCLUSION
A novel myopia locus for high-grade myopia may exist in the kindred. Genome-wide scan will be needed to determine this novel locus.
目的
在一个常染色体显性遗传的高度近视中国家系中定位高度近视基因。
方法
收集一个三代常染色体显性遗传高度近视家系。选择先前报道的与高度近视相关位点上的18个短串联重复序列标记进行基因分型，并进行两点连锁分析。
结果
受累个体的等效球镜度数范围为-6.00D至-20.00D，遗传模式为常染色体显性遗传。在所有18个微卫星标记中，LOD分数均小于-1，表明这些标记与该家系中高度近视相关基因之间无连锁关系。
结论
该家系中可能存在一个新的高度近视相关近视位点。需要进行全基因组扫描来确定这个新位点。
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