Leber视神经萎缩分子生物学检测

Molecular biological detection of lebers hereditary optic neuropathy

目的探讨线粒体ＤＮＡ１１７７８突变与Ｌｅｂｅｒ视神经萎缩（Ｌｅｂｅｒｓｈｅｒｅｄｉｔａｒｙｏｐｔｉｃｎｅｕｒｏｐａ－ｔｈｙ，ＬＨＯＮ）之间的关系。方法采用突变特异性引物－ＰＣＲ（ｍｕｔａｔｉｏｎｓｐｅｃｉｆｉｃｐｒｉｍｅｒＰＣＲ）及ＰＣＲ－ＲＦＬＰ（ＭａｅⅢ）检测临床可疑ＬＨＯＮ患者及有关亲属，两种方法结果均阳性者则收集其临床资料。结果１０例１１７７８突变阳性者中１例为携带者，９例为ＬＨＯＮ病人，患者中男性６例，女性３例，起病年龄１２～２５岁，双眼起病间隔０～６个月，随访１～１２年，视力为指数／眼前～０．１（除一例生育小孩后发病的患者有视力恢复），接受过视野、视诱发电位和色觉检查的患者结果均异常，而视网膜电图检查结果及全身情况多正常。结论１０例受试者的两种分子生物学检测结果都显示线粒体ＤＮＡ１１７７８突变。携带者状态和视力恢复现象的存在表明线粒体ＤＮＡ突变虽是ＬＨＯＮ的主要病因。

Purpose To investigate the relationship between mitochondrial DNA 11778 mutation and clinical characteristics of patients with Lebers hereditary optic neuropathy(LHON). Methods PCR RFLPs(MaeⅢ)and mutation specific primer PCR(MSP PCR)were used simultaneously to detect mitochondrial DNA 11778 mutation. Results Among 10 subjects who habored 11778 mutation,one was a carrier and nine were patients with LHON.Of the nine patients,six were males and three were females.The age of onset ranged from 12 to 25 years old and the onset interval of the two eyes varied between 0 to 6 months.The visual acuity was CF/10cm～0.1 except one who lost her vision after delivery but recovered gradually.The results of visual field,VEP and color vision were abnormal but ERG and systemic status were all normal. Conclusion Molecular biological detection of the ten subjects showed that they all habored mtDNA 11778 mutation.The existence of carrier and visual recovery implied that mtDNA mutation was a primary cause of LHON,but other factors such as endocrine disorder might influence the pathogenesis of LHON.