一例SMN1基因型疑为“2+0”型脊肌萎缩症家系的确认  

Diagnosis of a SMA pedigree be suspicion of “2+0” genotype of the SMN1 gene

作　　者：黄色新[1] 高选[1] 邹洋[1] 李杰[1] 徐佩文[1] 高明[1] 康冉冉 马水英[1] 高媛[1] 

机构地区：[1]山东大学生殖医学研究中心,山东济南250001

出　　处：《中国优生与遗传杂志》2016年第10期37-39,16,共4页Chinese Journal of Birth Health & Heredity

基　　金：山东省人口与计划生育委员会批准2012年第2号

摘　　要：目的对一例先证者父亲SMN1基因型疑为"2+0"型脊肌萎缩症家系进行确认。方法应用多重连接探针扩增、限制性酶切及靶基因相关STR连锁分析技术对先证者祖父母外周血及先证者父亲单精子样本进行检测。结果先证者祖母和祖父SMN1基因外显子7拷贝数分别为3和1,先证者父亲单精子SMN1基因外显子7拷贝数存在0和2两种类型,STR连锁分析证实了SMN1致病基因由先证者祖父到先证者父亲再到先证者传递的遗传关系。结论 MLPA技术联合单精子靶基因限制性酶切和STR连锁分析确定了先证者父亲SMN1基因型为"2+0"型,且遗传自先证者祖父母。Objective：To confirm a＂2＋0＂alleles of SMN1 gene in the proband′s father of a SMA pedigree. Methods：Multiple ligation-dependent probe amplification（MLPA）or Restriction enzyme digestion and STRs linkage analysis were performed with the peripheral blood of the grandparents and single sperm samples of the father. Results：The SMN1 copy numbers of proband′s grandfather and grandmother are 3 and 1 respectively. SMN1 exon7 deletion allele was found in the father′s single sperm samples. The linkage analysis further demonstrate the vertical transmission of the causing allele from the grandfather to the father and then to the proband. Conclusion：MLPA combined with the single sperm Restriction enzyme digestion and target gene linkage analysis confirmed the ＂2＋0＂ genotype of the SMN1 gene of the proband′s father.

关 键 词：脊肌萎缩症 多重连接依赖探针扩增 单精子 家系连锁分析 限制性酶切 

分 类 号：R746.4[医药卫生—神经病学与精神病学]