脊肌萎缩症SMN1基因疑似“2+0”型一例  

Case study of suspected"2+0"type of SMN1 gene of spinal muscular atrophy

作　　者：倪静逸 钟秀[1] 周晟泽 张怡君 彭雪娟 胡雪 邓春雷 NI Jing-yi;ZHONG Xiu;ZHOU Sheng-ze;ZHANG Yi-jun;PENG Xue-juan;HU Xue;DENG Chun-lei(Hubei University of Medicine,Shiyan 442000,Hubei,CHINA;Department of Reproduction and Genetic Medicine,Taihe Hospital Affiliated to Hubei University of Medicine,Shiyan 442000,Hubei,CHINA)

机构地区：[1]湖北医药学院,湖北十堰442000 [2]十堰市太和医院(湖北医药学院附属医院)生殖与产前诊断中心,湖北十堰442000

出　　处：《海南医学》2023年第19期2860-2862,共3页Hainan Medical Journal

基　　金：胚胎干细胞湖北省重点实验室开放课题(编号:2022ESOF021);湖北省十堰市太和医院博士启动基金(编号:2021-GXL-001);湖北省教育厅重点项目(编号:D20222102)。

摘　　要：脊肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传病,以脊髓前角细胞和脑干运动性脑神经核的进行性变性为主要特征。临床主要表现为进行性、对称性肌无力和萎缩。本研究采用MLPA和qPCR检测一例SMA运动神经元存活基因1(survival motor neuron 1,SMN1)可疑“2+0”的汉族孕妇,及其南非黑人丈夫和其胎儿的样本,发现孕妇、丈夫及胎儿的SMN1基因型均为“2”型。Spinal muscular atrophy(SMA)is an autosomal recessive disorder,which is characterized by progressive degeneration of the anterior horn cells of the spinal cord and the motor nucleus of the brain stem.The main clinical manifestations are progressive and symmetrical myasthenia and atrophy.In this study,MLPA and qPCR were used to detect a pregnant woman of Han nationalities who was suspicious of survival motor neuron 1(SMN1)gene type 2+0,her South African black husband,and their fetus.The results revealed that the pregnant woman,her husband,and their fetus were all SMN1 type 2.

关 键 词：脊肌萎缩症 运动神经元存活基因1 产前诊断 

分 类 号：R744[医药卫生—神经病学与精神病学]