LHON患者线粒体基因组突变频谱分析

目的 探讨3个原发性点突变与LHON的关系，以了解我国LHON的发病特点，为LHON的快速诊断和产前咨询提供一个快速、经济适用的方法。方法 选取83例临床诊断为LHON患者，针对其mtDNA基因组3460、11778、14484位点设计引物进行PCR，并对PCR产物进行SSCP及DNA序列分析。同时选取25例正常健康成人作为对照。结果 所有83例被临床诊断为LHON先证者中，发现78例患者有线粒体基因组DNA的点突变，占舛．0％（78／83）。其中73例患者mtDNA存在．G11778A位点突变，占88．0％（73／83）；1例为G3460A位点突变，占1．2％（1／83）；4例为T11448C位点突变，占4．8％（4／83）。未发现有先证者携带两个以上上述突变位点。结论 我国LHON患者以mtDNA的G11778A位点突变为主，但也存在部分G3460A和T14484C位点患者家系；SSCP可以应用于对LHON的辅助诊断和遗传咨询。

The realationship between the three mutant of human mtDNA and LHON

Objective To inform the relationship between the three mutant of buman mtDNA and LHON and the characteristic of LHON in China. Methods The DNA was abstracted from blood samples of 83 LHON patients and then PCR; SSCP and DNA sequencing had been done for PCR products. 25 healthy adults were selected as control. Results In 83 cases of LHON, 73 were found had the G11778A mutant, 1 had G3460A mutant and 4 had T14484C mutant, the ratio were 88.0%, 1.2% and 4.8% respectively. Conclusion The most mutant of mtDNA is G11778A in Chinese LHON patients, while G3460 and T14484C mutants were leas. PCR-SSCP can be applied in diagnosis and genetic eounseling of LHON.