Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia

[摘要] Purpose: Mitochondrial DNA (mtDNA)haplogroups affect the clinical expression of Leber hereditary opticneuropathy, age-related macular degeneration, and other diseases. Theobjective of this study is to investigate whether an mtDNA backgroundis associated with myopia. Methods: Blood DNA was obtained from 192college students, including 96 individuals with moderate-to-high myopiaand 96 controls without myopia. All the subjects were from a well-knownisolated population living in the Chaoshan area of east GuangdongProvince and speaking one of the four major dialects in southern China.The mtDNA haplogroups in the 192 subjects were determined by sequencingthe mtDNA control region and partial coding regions as well as byanalysis of restriction fragment length polymorphisms. Each mtDNA wasclassified according to the updated version of the Eastern Asianhaplogroup system. Results: Sixteen mtDNA haplogroups wererecognized in the 192 subjects. The overall matrilineal structures ofthe samples with and without myopia were similar and had geneticimprints showing their ethno-origin. There was no statisticaldifference in frequencies of haplogroup distribution between subjectswith and without myopia (χ2 test, p=0.556). Conclusions: We failed to identify cluesthat suggest an involvement of mtDNA background in the predispositionto myopia.

[学科分类] 生物化学/生物物理