摘要
目的补体因子H（complement factorH，cFH）基因R1210C突变与高加索人老年黄斑变性（age-related macular degeneration，AMD）显著相关。我们通过对中国大陆汉族人群进行病例一对照研究，评估CFH基因R1210C突变与中国人老年黄斑变性的相关性。方法收集258例中国汉族人湿性AMD患者作为病例组，同时收集来自同一地区426名正常中国汉族人作为对照，应用直接测序法检测CFH基因中R1210C的突变情况，并比较病例组和对照组的差异。结果258例中国人AMD患者和426名正常中国人的CFH基因中未发现R1210C突变。结论中国人老年黄斑变性与CFH基因R1210C突变可能无关。
Objective A R1210C mutation of complement factor H （CFH） gene has been associated with age-related macular degeneration （AMD） in Caucasian population. This study was to verify above association in Han Chinese population. Methods The mutation was detected by direct sequencing in 258 patients with wet AMD and 426 matched controls. Results The R1210C mutation has not been identified in either sample. Conclusion The R1210C mutation in CFH gene is not associated with AMD in Han Chinese population.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第5期570-572,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金面上项目（81170882）
关键词
补体因子H
老年黄斑变性
基因突变
基因测序
Complement factor H
Age-related macular degeneration
R1210C mutation
Gene sequencing
