[继发性突变对Leber遗传性视神经病变的影响分析]
[Analysis on the effect of secondary mutations on Leber's hereditary optic neuropathy].
作者信息
Wang Ying, Tong Yi, Hu Shi-xing, Wang Jian-yong, Shao Jun-bin, Zhang Hong-xing
机构信息
Department of Ophthalmology, Eye Hospital, Academy of Chinese Medical Science, Beijing, 100040 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):397-400.
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. Nevertheless many polymorphic points were found in the nearby fragments of these pedigrees, such as 5178, 5108, 3705, 3721, 13734, etc.
CONCLUSION
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.
目的
研究二次突变对Leber遗传性视神经病变（LHON）的影响。
方法
在4个有男性后代的中国家族中鉴定出3个原发性和24个二次突变。
结果
所有4个家系在核苷酸（nt）11778处携带经典的LHON突变，未携带24个二次突变中的任何一个位点。然而，在这些家系的附近片段中发现了许多多态性位点，如5178、5108、3705、3721、13734等。
结论
对于LHON家系，应分析男性后代序列，以避免线粒体DNA多态性所携带的家族遗传特征的影响。“修复基因”的存在可能影响LHON的发展。
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