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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 a highly efficient and rapid method of gene diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). Methods Based on the difference of two homologous copies of motor neuron survival gene (SMN gene), polymerase chain reaction (PCR) digestion method was used to select specific restriction sites in 11 cases of SMA children SMN gene test. At the same time, 4 families (CA) n such as C1 61, C1 71, C2 1 2, C2 72 were used to analyze the four families within and outside the SMN gene. Results In 10 children with SMA, 10 exons of SMNt7 and exon 8 were deleted and only 1 exon of exon 7 was deleted in 1 patient. Three of the four SMA pedigrees did not find the same SMN gene fragment as proband, and one fetus detected exactly the same SMN gene fragment as the proband. Conclusion The method is rapid, simple and suitable for clinical promotion.