CHEN Jie1, CI Xiaorui1, ZHANG Juanjuan1, 2, GUAN Minxin1
1.Zhejiang Provincial Key Laboratory of Medical Genetics, Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou 325035, China; 2.Scientific Research Center, School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou 325027, China
Abstract：Objective: To study the effect of mitochondrial haplotype on the penetrance of LHON among 17 probands with m.3460G>A mutation. Methods: LHON samples of 1 218 cases were screened for m.3460G>A mutation before the whole mitochondrial DNA and mitochondrial haplotype were analyzed. Results: We found 17 LHON pedigrees carrying the m.3460G>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.
