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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 the case of a skeletal muscular dystrophy family with suspected SMN1 genotype of “probable father” of “2 + 0”. Methods Multiplexed probe amplification, restriction enzyme digestion and target-related STR analysis were used to detect the samples of proband grandparents’ peripheral blood and proband’s father’s sperm. RESULTS: The copy number of exon 7 of SMN1 gene in probands was 3 and 1, respectively. There were two types 0 and 2 in exon 7 of SMN1 gene in probands, STR-linked analysis confirmed SMN1-induced Disease gene from the proband grandfather to the proband’s father and then to the proband who passed the genetic relationship. Conclusions MLPA combined with single-sperm gene restriction analysis and STR-linkage analysis confirmed that the proband’s father’s SMN1 genotype was “2 + 0” and inherited from the proband’s grandparents.