摘要
目的分析中国人Leber遗传性视神经病变(LHON)3个原发致病基因突变的特征及中医辨证治疗的疗效。方法对81例LHON患者分别用异源双链-单链构像多态性(HA-SSCP)、限制性片段长度多态性(RFLP)、突变特异性引物聚合酶链反应(MSP-PCR)及DNA测序等方法检测其mtDNA11778、14484、3460位点的基因突变情况,并进行中医辨证治疗。结果81例患者(男59例,女22例)中,11778位点突变71例,占87.65%,14484位点突变8例,占9.88%,3460位点突变2例,占2.47%。中医辨证为肝经郁热型58例,肝郁肾虚型14例,肝肾阴虚型9例。结论中国人LHON患者mtDNA3个原发致病位点突变中,以11778位点突变为主,14484次之,3460最少。其发病与中医肝肾的关系最为密切,中医药治疗有一定的疗效。
Objective To analyze the characteristics of three primarily virulence genes mutation of Chinese Leber＇ s Hereditary Optic Neuropathy （LHON） and the effect of differentiation of symptoms and signs. Methods Mutation status of mitochondria DNA 11778, 14484, 3460 in patients with LHON were measured by HA-SSCP, RFLP, MSP-PCR and DNA sequencing. Results In all patients 87.65% was 11778 site mutation, 9.88% was 14484 site mutation and 2.47% was 3460 site mutation. The liver meridian stagnated heat type was 58 cases, stagnation of liver-QI renal deficiency type was 14 cases and hepatic and renal yin deficiency type was 9 cases. Conclusion In three primarily virulence genes mutation of Chinese LHON, 11778 site mutation was primary, 14484 site mutation was secondary, 3460 site mutation was least. The onset of LHON was related to hepatonephric Traditional Chinese Medicine.
出处
《河北中医》
2007年第1期51-53,共3页
Hebei Journal of Traditional Chinese Medicine
基金
河北省科学技术研究与发展计划项目(编号:03270196D-71)
