Leber视神经萎缩分子生物学检测

目的 探讨线粒体DNA1778突变与Leber视神经萎缩(Leber shereditary optic neuropathy,LHON)之间的关系. 方法采用突变特异性引物PCR(mutation specific primer PCR)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0-12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，但其他因素如内分泌失调也可影响其发病。(中华眼底病杂志,1998,14:156-158)

Molecular biological detection of leber is hereditary optic neuropathy

Purpose To investigate the relationship between mitochondrial DNA 11778 mutation and clinical characteristics of patients with Laber is 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 eyed 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 imlied that mtDNA mutation was a primary cause of LHON,but other factors such as endocrine disorder might influence the pathogenesis of LHON.(Chin J Ocul Fundus Dis,1998,14:156-158)