中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
6期
667-669
,共3页
王进%罗曼%袁志刚%杨笑%李桂冰
王進%囉曼%袁誌剛%楊笑%李桂冰
왕진%라만%원지강%양소%리계빙
脊髓小脑性共济失调3型%线粒体DNA%突变
脊髓小腦性共濟失調3型%線粒體DNA%突變
척수소뇌성공제실조3형%선립체DNA%돌변
spinocerebellar ataxia type 3%mitochondrial DNA%mutation
目的 探索脊髓小脑性共济失调3型(spinocerebellar ataxia type 3,SCA3)与线粒体DNA(mitochondrial DNA,mtDNA)突变的关系.方法 采用测序方法对临床诊断为脊髓小脑性共济失调的患者及家系成员行MJD1基因CAG重复拷贝数检测,以基因水平确诊SCA3患者及症状前患者.然后采用聚合酶链反应、单链构象多态性分析、测序方法对基因确诊的43例SCA3患者及症状前患者和30名对照组的mtDNA片段进行分析.结果 发现SCA3组4名成员存在mtDNA位点8282.8290区域9个碱基缺失.结论 在SCA3患者及症状前患者中发现mtDNA缺失突变的现象.
目的 探索脊髓小腦性共濟失調3型(spinocerebellar ataxia type 3,SCA3)與線粒體DNA(mitochondrial DNA,mtDNA)突變的關繫.方法 採用測序方法對臨床診斷為脊髓小腦性共濟失調的患者及傢繫成員行MJD1基因CAG重複拷貝數檢測,以基因水平確診SCA3患者及癥狀前患者.然後採用聚閤酶鏈反應、單鏈構象多態性分析、測序方法對基因確診的43例SCA3患者及癥狀前患者和30名對照組的mtDNA片段進行分析.結果 髮現SCA3組4名成員存在mtDNA位點8282.8290區域9箇堿基缺失.結論 在SCA3患者及癥狀前患者中髮現mtDNA缺失突變的現象.
목적 탐색척수소뇌성공제실조3형(spinocerebellar ataxia type 3,SCA3)여선립체DNA(mitochondrial DNA,mtDNA)돌변적관계.방법 채용측서방법대림상진단위척수소뇌성공제실조적환자급가계성원행MJD1기인CAG중복고패수검측,이기인수평학진SCA3환자급증상전환자.연후채용취합매련반응、단련구상다태성분석、측서방법대기인학진적43례SCA3환자급증상전환자화30명대조조적mtDNA편단진행분석.결과 발현SCA3조4명성원존재mtDNA위점8282.8290구역9개감기결실.결론 재SCA3환자급증상전환자중발현mtDNA결실돌변적현상.
Objective To study the possible relationship between the mitochondrial DNA (mtDNA) mutation and spinocerebellar ataxia type 3 (SCA3).Methods Genetic diagnosis of SCA3 was made by detecting the CAG-repeat expansion of MJD1 gene using PCR and DNA sequencing techniques.Then polymetase chain reaction-single strand conformation polymorphism (PCR-SSCP) was performed to analyze the mitoehondrial DNA extracted from peripheral white blood cells from 43 patients and presymptomatic individuals diagnosed according to CAG expansion,and 30 healthy individuals.Mitoehondrial DNAs of subjects with abnormal SSCP were sequence.Results A new mitochondrial DNA deletion of 9 bp at mtDNA 8282-8290 was identified in 1 patient and 3 presymptomatic individuals.Conclusion A new deletion mutation of mitochondrial DNA in 1 SCA3 patient and 3 presymptomatic individuals is reported.
