摘要
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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第4期205-208,T016,共4页
Chinese Journal of Medical Genetics
基金
广东省科委资助