应用多重PCR扩增法快速诊断中国人DMD基因缺失

APPLICATION OF MULTIPLEX PCR AMPLIFICATION FOR RAPID DIAGNOSIS OF MOLECULAR DELETIONS IN THE CHINESE DMD PATIENTS Zeng

应用9组寡核苷酸引物多重PCR扩增dystrophin基因相应的9对DNA顺序,对52名中国人DMD患者进行基因缺失的分析,结果显示有27名患者缺失了部分扩增的DNA片段,占受检患者总数的52%,并表明应用这9对扩增DNA片断可以检测出90%左右具有基因缺失的中国人DMD患者,若选择组合应用2组扩增片段b和f,便可检测出75%的基因缺失患者。本文的研究结果为我国开展DMD分子水平的快速诊断和产前诊断提供了有价值的科学资料。

This paper reports the analysis of molecular deletions in 52 Chinese DMD patients by using multiplex PCR amplification of nine DNA sequences in dystrophin gene directed by nine sets of oligonucleotide primers, the results showed that partial deletions of the amplified dystrophin DNA occurred in 27 patients. accounting for 52% of the total examined patients. It also indicated that about 90% of Chinese DMD patients with dystrophin gene deletions could be detected by using all the nine sets of amplified DNA, and nearly 75% of all dystrophin gene deletions could be detected by using co-amplification of two fragments, b and f. This work provides valuble information for developing rapid dignosis and prenatal diagnosis of DMD at molecular level in China.