反转录与套式PCR技术在DMD／BMD杂合子基因诊断中的应用

APPLICATION OF REVERSE TRANSCRIPTION AND NESTED PCR IN THE GENE DIAGNOSIS OF DMD/BMD CARRIERS

以外周血为标本提取细胞质总ＲＮＡ，应用ＤＭＤ基因的反转录多聚酶链反应技术（反转录ＰＣＲ，ｒｅｖｅｒｓｅｔｒａｎｓｃｒｉｐｔｉｏｎＰＣＲ，ＲＴ－ＰＣＲ）检测了１０个ＤＭＤ／ＢＭＤ家系。结果在４个家系中发现６个患者获得较短的ＰＣＲ片段，其中在２个家系中发现部分女性同时获得正常大小和相应较短的ＰＣＲ片段，而得到了满意的患者和杂合子携带者的诊断。该法有利于ＤＭＤ／ＢＭＤ患者、尤其是杂合子携带者的确诊，为产前基因诊断和遗传咨询提供了科学的依据。

We have developed the technology of reverse transcription,and nested PCR of DMD gene depending on the total cytoplasmic RNA of peripheral cells. After screening of 10 DMD/BMD pedigrees,we found mutations of deletion in 6 patients of 4 families by a shorter RT-PCR product,and in two of these families,we found some female carriers by normal and short RT-PCR products,The reverse transcription PCR of DMD gene has greatly improved the gene diagnosis in China and facilitated the diagnosis of the DMD/BMD patients,particularly the accurate diagnosis of carriers.