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目的进行脊髓性肌萎缩症(spinal muscular atrophy,SMA)基因携带者的筛查,为遗传咨询提供理论依据。方法应用实时荧光定量PCR特异性扩增264名健康人、88例经基因诊断确诊SMA患者的双亲、32名SMA家系其它成员的SMN1基因第7外显子及其邻近区域,以已确定只有2拷贝SMN1的样品作为标准对照。结果88例确诊SMA患者双亲除4名SMN1拷贝数为2外,其余均只有1拷贝SMN1。264名正常人中5人仅有1拷贝SMN1,为基因携带者,该组中含2、3、4拷贝SMN1的人数分别为232、25、2。32名SMA家系成员中有2名SMN1拷贝数为1,为基因携带者,25名SMN1拷贝数为2,另5名拷贝数为3。结论实时荧光定量PCR技术可进行单拷贝差异SMN1基因的定量检测,结果准确、重复性好,基因携带者的筛查为本病遗传咨询提供了重要依据。
Objective To screen the carriers of spinal muscular atrophy (SMA) gene and provide theoretical basis for genetic counseling. Methods 264 healthy individuals were amplified by real-time fluorescence quantitative PCR. 88 parents of SMA patients diagnosed by gene diagnosis and other members of 32 SMA family members were detected in exon 7 of SMN1 gene and their adjacent regions. Only 2 Samples of SMN1 were copied as standard controls. Results There were only 1 copy SMN1 in 88 parents diagnosed SMA patients except for 4 SMN1 copies and only 1 copy SMN1 in 5 264 out of 264 normal subjects. The number of 4 copies of SMN1 was 232,25. Two of SMN1 copies of 2 of 32 SMA family members were 1, which were gene carriers, 25 SMN1 copies were 2 and the other 5 copies were 3 copies. Conclusion The real-time PCR method can detect the single copy difference SMN1 gene quantitatively and the results are accurate and reproducible. The screening of gene carriers provides an important basis for genetic counseling.