17例携带m.3460G>A突变的Leber遗传性视神经病变的线粒体单体型分析  

Mitochondrial haplogroup analysis of 17 Leber’s hereditary optic neuropathy patients carrying MT-ND1 3460G>A mutation

作　　者：陈洁[1] 次晓蕊 张娟娟[1,2] 管敏鑫 CHEN Jie;CI Xiaorui;ZHANG Juanjuan;GUAN Minxin(Zhejiang Provincial Key Laboratory of Medical Genetics,Attardi Institute of Mitochondrial Biomedicine,Wenzhou Medical University,Wenzhou 325035,China;Scientific Research Center,School of Ophthalmology and Optometry,Wenzhou Medical University,Wenzhou 325027,China)

机构地区：[1]温州医科大学检验医学院生命科学学院,Attardi线粒体生物医学研究所,浙江温州325035 [2]温州医科大学附属眼视光医院科研中心,浙江温州325027

出　　处：《温州医科大学学报》2020年第4期306-311,共6页Journal of Wenzhou Medical University

基　　金：国家自然科学基金资助项目(81200724);浙江省医药卫生科技计划项目(2019RC219);温州基础性科研项目(Y20190067);浙江省自然科学基金资助项目(LY20C060003)。

摘　　要：目的:研究线粒体单体型对17个携带m.3460G>A突变Leber遗传性视神经病变(LHON)家系外显率的影响。方法:对收集的1 218个LHON患者进行m.3460G>A筛查,然后对携带m.3460G>A患者进行线粒体全基因组测序、单体型分析。结果:共筛查出17个携带m.3460G>A突变家系,占该研究群体的1.4%(17/1 218),线粒体单体型分析显示,其分别为单体亚型A、B5b、B5b2、C4a1、D4、D5b1、F1、F1a1、H2、M7b1、M7b2、M7c1、M8a2、M10a、M12,单体亚型D5b1有3例,其余各1例。11例单体亚型属于单体型M,6例属于单体型N,前者出现视力损伤的人数明显多于后者,损伤程度亦重于后者。结论:LHON家系中单体型M出现重度视力损伤的概率大于单体型N。Objective: To study the effect of mitochondrial haplotype on the penetrance of LHON among 17 probands with m.3460 G>A mutation. Methods: LHON samples of 1 218 cases were screened for m.3460 G>A mutation before the whole mitochondrial DNA and mitochondrial haplotype were analyzed. Results: We found 17 LHON pedigrees carrying the m.3460 G>A mutation, accounting for 1.4%(17/1 218) in the Chinese LHON cohort. Meanwhile, 17 haplogroups were found to be mitochondrial subtype A, B5b, B5b2, C4a1, D4, D5b1, F1, F1a1, H2, M7b1, M7b2, M7c1, M8a2, M10a, M12, respectively. Three of all were haplogroup D5b1 and the others had only one proband. Eleven probands were haplogroup M and six haplogroup N. The former had more probands in number and the degree of visual loss was more severe than the latter. Conclusion: Haplogroup M is more prone to visual loss than haplogroup N.

关 键 词：LEBER遗传性视神经病变 m.3460G>A 单体型 外显率 视力损伤 

分 类 号：R774[医药卫生—眼科]