CAJ | 학술논문

目的对脊髓性肌萎缩症患者及携带者进行基因诊断和产前基因诊断.方法对26例脊髓性肌萎缩症患者应用PCR-限制性片段长度多态性(PCR-restiction fragment length polymorphism,PCR-RFLP)技术检测SMN1基因第7外显子是否缺失;对于患者的父母应用多重PCR结合变性高效液相色谱(denaturing high performance liquid chromatography,DHPLC)的方法进行携带者诊断;而既往生产过患儿的孕妇于孕中期抽取羊水,进行产前基因诊断.结果 26例脊髓性肌萎缩症患者中查出25例存在SMN1基因第7外显子纯合缺失;患者的父母全部为SMN1基因第7外显子杂合缺失携带者;对20名既往生产过患儿的孕妇进行了产前诊断,8名存在SMN1基因第7外显子纯合缺失.结论 PCR-RFLP、多重PCR结合DHPLC技术可应用于患者及携带者基因诊断;PCR-RFLP可用于脊髓性肌萎缩症的产前基因诊断.
목적 대척수성기위축증환자급휴대자진행기인진단화산전기인진단.방법 대26례척수성기위축증환자응용PCR-한제성편단장도다태성(PCR-restiction fragment length polymorphism,PCR-RFLP)기술검측SMN1기인제7외현자시부결실;대우환자적부모응용다중PCR결합변성고효액상색보(denaturing high performance liquid chromatography,DHPLC)적방법진행휴대자진단;이기왕생산과환인적잉부우잉중기추취양수,진행산전기인진단.결과 26례척수성기위축증환자중사출25례존재SMN1기인제7외현자순합결실;환자적부모전부위SMN1기인제7외현자잡합결실휴대자;대20명기왕생산과환인적잉부진행료산전진단,8명존재SMN1기인제7외현자순합결실.결론 PCR-RFLP、다중PCR결합DHPLC기술가응용우환자급휴대자기인진단;PCR-RFLP가용우척수성기위축증적산전기인진단.
Objective To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA). Methods Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children. Results Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP. Conclusion PCR-RFLP and multi-PCR-DHPI.C techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.