Leber遗传性视神经病变分子遗传学的研究

MOLECULAR GENETIC STUDY ON LEBERS HEREDITARY OPTIC NEUROPATHY

目的：就Ｌｅｂｅｒ遗传性视神经病变（Ｌｅｂｅｒ′ｓｈｅｒｅｄｉｔａｒｙｏｐｔｉｃｎｅｕｒｏｐａｔｈｙ，ＬＨＯＮ）进行了线粒体ＤＮＡ的探讨。方法：应用聚酶链反应（ｐｏｌｙｍｅｒａｓｅｃｈａｉｎｒｅａｃｔｉｏｎ，ＰＣＲ）方式对ＬＨＯＮ一家系１１人以及非ＬＨＯＮ家系的对照者４人进行了线粒体ＤＮＡ的分析。结果：ＬＨＯＮ患者有限制性内切酶ＳｆａＮＩ酶切位点丧失，家系中女性是此病的遗传基因的携带者。结论：Ｌｅｂｅｒ遗传性视神经病变患者存在线粒体的点突变，造成限制性内切酶ＳｆａＮＩ酶切位点丧失，这一改变是本病的发病机制之一。

PURPOSE To investigate mitochondrial DNA(mtDNA) of Leber′s hereditary optic neuropathy(LHON).METHODS Polymerase chain reaction(PCR)method was used to analyse mtDNA of 11 patients in a pedigree with LHON and 4 control subjects from now LHON pedigree.RESULTS There was a loss of a restriction site for the restriction endonuclease SfaN I in the Patients with LHON.In this pedigree,maternal lineage was regarded a carrier of the pathogenic gene.CONCLUSIONS The patients with Leber′s hereditary optic neuropathy have a point mutation in mtDNA,which results in loss of SfaN I endonuclease restriction site,and this change is one of mechanisms inducing this disaese.