应用聚合酶链式反应-酶切法进行脊髓性肌萎缩的基因诊断及产前诊断  

Genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by restriction endonucleases digestion of PCR product

作　　者：李崎[1] 马燕琳[1] 潘乾[1] 夏家辉[1] 戴和平[1] 

机构地区：[1]中南大学中国医学遗传学国家重点实验室,长沙410078

出　　处：《中华医学杂志》2001年第23期1447-1449,共3页National Medical Journal of China

基　　金：国家自然科学基金资助项目 (3 0 0 70 4 1 0 );国家"973"(G1 9980 5 1 0 0 2 )

摘　　要：目的　建立一种高效、快速的脊髓性肌萎缩 (SMA)的基因诊断与产前诊断的方法。方法　基于运动神经元生存基因 (SMN基因 )的两个同源拷贝碱基上的差异 ,采用聚合酶链反应 (PCR) 酶切的方法 ,选择特异的酶切位点对 1 1例SMA患儿进行SMN基因检测。同时采用SMN基因内部及旁侧的C1 61、C1 71、C2 1 2、C2 72等 4对 (CA)n对 4个家系进行连锁分析。结果　 1 1例SMA患儿中 1 0例患儿缺失SMNt7、8号外显子 ,1例患儿仅缺失 7号外显子。 4个SMA家系中有 3个胎儿未发现与先证者完全相同的SMN基因片段 ,1个胎儿检测到与先证者完全相同的SMN基因片段。结论　该方法快速、简便 ,适合临床推广。Objective To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). Methods 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats. Results Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in one patient. Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband. Conclusion Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.

关 键 词：脊髓性肌萎缩 基因诊断 聚合酶链反应 产前诊断 SMA 

分 类 号：R394-33[医药卫生—医学遗传学]