摘要
应用分子生物学技术，用９组寡核苷酸引物分两步多重聚合酶链反应扩增ｄｙｓｔｒｏｐｈｉｎ基因的９段脱氧核糖核酸序列。对３６例ＤＭＤ和４例ＢＭＤ进行基因诊断。首先用缺失率较高的５对引物扩增，检出缺失者１７例，再用４对引物扩增，检出缺失者２例。这样，９对引物多重ＰＣＲ总缺失率占受检患者的４７．５％，表明此法可检测出７９．１％左右有基因缺失的患者。实验结果提示，两步多重ＰＣＲ可用于ＤＭＤ／ＢＭＤ的基因诊断。
Abstract In the present study，9 oligonucleotide primers were employed to amplify 9 pairs of DNA sequences of dystrophin gene using the two-step multiplex polymerase chain reaction（mPCR）Furthennore，gene diagnosis were undertaken in 36 cases of Duchenne muscular dystrophy and 4 cases of Becker muscular dystrophy，The findings showed that 17 cases of deletiori were detected by 5 ampli-fied primers with a relatively high incidence of deletion and 2 more cases of deletion were detected using the remaining 4 amplified primers．The deletion rate of 9 primers using two-step mPC R was 47．5％of the patients examined，suggesting that about 79．1％of patients with gene deletion were detected．The resuIts of the experiment show that two-step mPCR can be used in the gene diagnosis of DMD／BMD.
