比较MSP PCR、SSCP、RFLP在检测Leber s视神经萎缩 (LHON)线粒体DNA (mt DNA) 11778突变中的优缺点。 77例受试者 ,分别用MSP PCR、SSCP、RFLP法检测mt DNA11778突变。被MSP PCR检出的 48例阳性者同时也被SSCP检出 ,另外SSCP还检出 6例杂合性突变 ;MSP PCR和SSCP检测阳性的 9例患者 ,再用RFLP (MaeⅢ )检测也得出一致结果。表明多条件SSCP在mt DNA未知突变筛查中具有优势 ,而MSP PCR有助于确定突变的性质。 To compare the advantages and disadvantages of MSP PCR, SSCP and RFLP in detecting 11778 mutations of mitochondrial DNA (mt DNA) in Leber’s optic atrophy (LHON). 77 subjects were tested for mt DNA11778 mutation by MSP PCR, SSCP and RFLP respectively. The 48 positive cases detected by MSP PCR were also detected by SSCP, and another 6 cases of heterozygous mutations were detected by SSCP. Nine patients with positive MSP PCR and SSCP were detected by RFLP (MaeⅢ) Consistent results. This suggests that multi-conditional SSCP has advantages in the screening of unknown mutations in mt DNA, and MSP PCR can help determine the nature of the mutation.