中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
3期
320-323
,共4页
曹东华%任梅宏%刘晓莉%金春莲%孟昭义%邱广斌
曹東華%任梅宏%劉曉莉%金春蓮%孟昭義%邱廣斌
조동화%임매굉%류효리%금춘련%맹소의%구엄빈
脊髓小脑性共济失调%三核苷酸重复%基因诊断%产前诊断
脊髓小腦性共濟失調%三覈苷痠重複%基因診斷%產前診斷
척수소뇌성공제실조%삼핵감산중복%기인진단%산전진단
spinocerebellar ataxia%trinucleotide repeat%gene diagnosis%prenatal diagnosis
目的 确定一脊髓小脑性共济失调(spinocerehellar ataxia,SCA)家系具体分型,并开展症状前患者检测和产前诊断.方法 收集该脊髓小脑性共济失调家系中的2例患者的血液标本,结合该家系的临床表现和我国该类疾病的发病率,采用聚合酶链反应对SCA1、SCA2和SCA3/MJD 3个基因的三核苷酸重复片段进行扩增,并通过琼脂糖凝胶电泳和PCR产物测序的方法确定所有正常和异常扩增等位基因内三核苷酸重复次数.明确致病基因后,对患者子女进行症状前检测,并对1例怀孕症状前患者进行了产前诊断.结果 SCA1和SCA2基因内三核苷酸重复次数在正常范围内,SCA3/MJD的2个等位基因中1个等位基因三核苷酸重复次数在正常范围内,另1个等位基因三核苷酸重复次数在异常范围内.患者子女有1人携带异常等位基因,胎儿携带异常等位基因.结论 该家系经基因诊断确诊为SCA3/MJD型,有1人为症状前患者,该症状前患者所孕胎儿也为症状前患者.
目的 確定一脊髓小腦性共濟失調(spinocerehellar ataxia,SCA)傢繫具體分型,併開展癥狀前患者檢測和產前診斷.方法 收集該脊髓小腦性共濟失調傢繫中的2例患者的血液標本,結閤該傢繫的臨床錶現和我國該類疾病的髮病率,採用聚閤酶鏈反應對SCA1、SCA2和SCA3/MJD 3箇基因的三覈苷痠重複片段進行擴增,併通過瓊脂糖凝膠電泳和PCR產物測序的方法確定所有正常和異常擴增等位基因內三覈苷痠重複次數.明確緻病基因後,對患者子女進行癥狀前檢測,併對1例懷孕癥狀前患者進行瞭產前診斷.結果 SCA1和SCA2基因內三覈苷痠重複次數在正常範圍內,SCA3/MJD的2箇等位基因中1箇等位基因三覈苷痠重複次數在正常範圍內,另1箇等位基因三覈苷痠重複次數在異常範圍內.患者子女有1人攜帶異常等位基因,胎兒攜帶異常等位基因.結論 該傢繫經基因診斷確診為SCA3/MJD型,有1人為癥狀前患者,該癥狀前患者所孕胎兒也為癥狀前患者.
목적 학정일척수소뇌성공제실조(spinocerehellar ataxia,SCA)가계구체분형,병개전증상전환자검측화산전진단.방법 수집해척수소뇌성공제실조가계중적2례환자적혈액표본,결합해가계적림상표현화아국해류질병적발병솔,채용취합매련반응대SCA1、SCA2화SCA3/MJD 3개기인적삼핵감산중복편단진행확증,병통과경지당응효전영화PCR산물측서적방법학정소유정상화이상확증등위기인내삼핵감산중복차수.명학치병기인후,대환자자녀진행증상전검측,병대1례부잉증상전환자진행료산전진단.결과 SCA1화SCA2기인내삼핵감산중복차수재정상범위내,SCA3/MJD적2개등위기인중1개등위기인삼핵감산중복차수재정상범위내,령1개등위기인삼핵감산중복차수재이상범위내.환자자녀유1인휴대이상등위기인,태인휴대이상등위기인.결론 해가계경기인진단학진위SCA3/MJD형,유1인위증상전환자,해증상전환자소잉태인야위증상전환자.
Objective To identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis. Methods The blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were amplified by polymerase chain reaction (PCR). The numbers of CAG repeats in the normal and abnormal allele fragments were identified by using agarose gel electrophoresis and DNA sequencing. We further carried out tests on the children of the patients and fetus to identify the presence of the abnormal allele. Results The numbers of CAG repeat in the SCA1 and SCA2 genes were in the normal range. The CAG repeat number in one allele of SCA3/MJD gene was in the normal range, while that in the other allele was in the abnormal range. One of the children of the patients and the fetus carried the abnormal allele. Conclusion It was confirmed that the pedigree was SCA3/MJD by gene diagnosis. One of the children of the patients was asymptomatic carrier and the fetus also carried the abnormal allele.
