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目的探讨多重连接依赖性探针扩增技术在脊肌萎缩症的患者诊断、携带者诊断及产前诊断中的应用。方法收集脊肌萎缩症患者39例、父母30例(15例患者的双亲)、胎儿9例;同时选取44例健康个体为正常对照。抽提外周血或羊水标本DNA,应用多重连接依赖性探针扩增技术分析SMN1基因外显子7和外显子8是否缺失。结果 39例脊肌萎缩症患者中有35例存在SMN1基因外显子7和外显子8纯合缺失,其余4例为外显子7纯合缺失。30例父母的SMN1基因均呈现外显子7和外显子8杂合缺失。9例胎儿中,有2例存在SMN1基因外显子7和外显子8纯合缺失,4例有外显子7和外显子8杂合缺失,3例未见SMN1基因外显子7或外显子8缺失。44例正常对照个体均未见SMN1基因外显子7或外显子8缺失。结论多重连接依赖性探针扩增技术是一种可靠的脊肌萎缩症分子诊断方法,可用于脊肌萎缩症的患者基因诊断、携带者基因诊断及产前基因诊断。
Objective To investigate the application of multiple attachment-dependent probe amplification in the diagnosis, carrier diagnosis and prenatal diagnosis of spinal muscular atrophy. Methods 39 patients with spinal muscular atrophy, 30 parents (15 parents) and 9 fetuses were collected. At the same time, 44 healthy individuals were selected as normal control. Extracted peripheral blood or amniotic fluid sample DNA, the use of multiple connection-dependent probe amplification analysis SMN1 gene exon 7 and exon 8 is missing. Results There were 35 homozygous deletion of exon 7 and exon 8 of SMN1 gene in 39 cases of spinal muscular atrophy, and the other 4 cases were deletion of exon 7 homozygosity. 30 cases of parents SMN1 gene showed exon 7 and exon 8 heterozygous deletion. In 9 fetuses, there were 2 cases of homozygous deletion of exon 7 and exon 8 of SMN1 gene, heterozygous deletion of exon 7 and exon 4 in 4 cases, and no exon 7 of SMN1 gene in 3 cases Or exon 8 is deleted. No deletion was found in exon 7 or exon 8 of SMN1 gene in 44 normal controls. Conclusions Multi-connection-dependent probe amplification is a reliable molecular diagnostic method for spinal muscular atrophy. It can be used for gene diagnosis, genetic diagnosis of carriers and diagnosis of prenatal gene in patients with spinal muscular atrophy.