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目的 :研究国人脊髓性肌萎缩 (SMA )基因缺失特点。方法 :应用 PCR扩增及限制性内切酶技术对 15例儿童型 SMA ( 型 7例 , 型 4例 , 型 4例 )和 2例成人型 SMA进行运动神经元存活基因 (SMN)第 7外显子和神经元凋亡抑制蛋白基因 (NAIP)第 5外显子缺失分析 ,并对 1例有阳性家族史的家系进行了羊水胎儿产前诊断。结果 :14例儿童型 SMA携有 SMN基因第 7外显子缺失 ,占 93% ;2例 型 SMA携有 NAIP基因第 5外显子缺失 ,占 2 8.6 %。 2例成人型 SMA未显示 SMN或 NAIP基因缺失。结论 :儿童型 SMA的 SMN基因缺失频率高 ,可应用于临床 ,提高 SMA诊断率 ,适于产前诊断及鉴别诊断。 NAIP基因缺失可能与 SMA的严重程度有关。成人型SMA与儿童型 SMA为非等位基因突变。
Objective: To study the characteristics of Spinal Muscular Atrophy (SMA) gene deletion in Chinese. Methods: Fifteen children with SMA (type 7, type 4, type 4) and 2 adults with SMA were subjected to 7th generation of motor neuron survival gene (SMN) by PCR amplification and restriction endonuclease technique Exon 5 exon deletion analysis of the neuronal apoptosis inhibitor protein (NAIP) gene and prenatal diagnosis of fetal amniotic fluid in 1 pedigree with a positive family history. Results: The deletion of exon7 of SMN gene was found in 14 cases of childhood SMA, and 93% of SMN gene was found in 2 cases of SMA. The deletion of exon 5 of NAIP gene was found in 2 cases, accounting for 28.6%. Two adult SMAs showed no deletion of SMN or NAIP genes. Conclusion: The deletion frequency of SMN gene in childhood SMA is high, which can be used in clinical practice to improve the diagnostic rate of SMA and be suitable for prenatal diagnosis and differential diagnosis. NAIP gene deletion may be related to the severity of SMA. Adult SMA and childhood SMA are non-allelic mutations.