继发突变位点对Leber＇s遗传性视神经萎缩作用机制的研究

Analysis on the effect of secondary nmtations on Leber＇ s hereditary optic neuropathy

目的探讨继发突变位点在Leber’s遗传性视神经萎缩（Leber＇s hereditary optic neuropathy，LHON）疾病发生发展中的作用。方法对4个LHON家系患者及家系男性子代进行3个原发位点、24个继发位点及相邻片段检查。结果4家系均携带11778位点突变，所查患者无24个继发位点突变，但在这些位点的相邻片段上有5178、5108、3705、3721、13734等多个多态位点存在。结论线粒体多态位点具有家族遗传性，在LHON继发位点研究中应同时进行男性子代检查，以排查突变位点是否具有致病性。“修复基因”的存在可能对LHON疾病发展有影响。

Objective To investigate the effect of secondary mutations on Leber＇ s hereditary optic neuropathy （LHON）. Methods Three primary and 24 secondary mutations were identified in 4 Chinese families which included male offspring. Results All of the four pedigrees carried classic LHON mutations at nucleotide （nt） 11778, and did not carry any point of 24 secondary mutations. Neveltheless many polymorphic points were found in the nearby fragments of these pedigrees, such as 5178, 5108, 3705, 3721, 13734, etc. Condutdon Male offspring sequences should be analyzed in pedigrees with LHON to avoid the influence of familial inheritance characteristic which mitochondrial DNA polymorphism carried. Existence of the “repair genes” may affect the development of LHON.