CAJ | 학술논문

目的：探讨基于羊水细胞培养和毛细管电泳片段分析技术的脊髓小脑共济失调3型（ SCA3／MJD）的产前诊断方法。方法对1例孕20周的确诊SCA3／MJD患者及8名孕16～19周的高龄孕妇进行羊膜穿刺术并抽取羊水细胞培养。采用毛细管电泳片段分析技术对MJD1基因内（ CAG） n重复序列动态突变进行检测。结果 SCA3／MJD患者胎儿MJD1基因（ CAG） n次数为22／78次，胎儿携带其母亲的异常等位基因，诊断为SCA3／MJD。8例高龄孕妇胎儿MJD1基因（ CAG） n重复次数13～26次，均在正常范围内。结论羊水细胞培养并毛细管电泳片段分析技术简便，准确，可作为SCA3／MJD产前诊断的可靠方法进一步推广。
목적：탐토기우양수세포배양화모세관전영편단분석기술적척수소뇌공제실조3형（ SCA3／MJD）적산전진단방법。방법대1례잉20주적학진SCA3／MJD환자급8명잉16～19주적고령잉부진행양막천자술병추취양수세포배양。채용모세관전영편단분석기술대MJD1기인내（ CAG） n중복서렬동태돌변진행검측。결과 SCA3／MJD환자태인MJD1기인（ CAG） n차수위22／78차，태인휴대기모친적이상등위기인，진단위SCA3／MJD。8례고령잉부태인MJD1기인（ CAG） n중복차수13～26차，균재정상범위내。결론양수세포배양병모세관전영편단분석기술간편，준학，가작위SCA3／MJD산전진단적가고방법진일보추엄。
Objective To explore the prenatal diagnosis methods of spinocerebellar ataxia type 3 ( SCA3 )/Machado-Joseph disease ( MJD ) based on amniotic fluid cells culturing and fragment analysis with capillary electrophoresis.Methods The amniocentesis and aminotic cell culture were performed in a SCA3/MJD pregnant women at 20 weeks of gestation and 8 pregnant women at 16 -19 weeks of gestation.The MJD1 gene ( CAG ) n dynamic mutation were detected by capillary electrophoresis separation.Results The number of MJD1 gene ( CAG) n in fetal of SCA3/MJD patient was 22/78, the fragments of abnormal alleles was come from his mother.The fetus was diagnosed with SCA3/MJD.The number of MJD1 gene (CAG)n in fetal of 8 controls were 13-26, they were in normal range.Conclusions Amniotic fluid cells culturing and fragment analysis with capillary electrophoresis are very simple and precise methods.It worths to be recommended as a promising protocol for SCA3/MJD’s prenatal diagnosis and genetic consultation.