中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2009年
5期
301-305
,共5页
NIE Li-luo%聂利珞%郭纪锋%张海南%张学伟%王磊%沈璐%江泓%夏昆%唐北沙%严新翔
NIE Li-luo%聶利珞%郭紀鋒%張海南%張學偉%王磊%瀋璐%江泓%夏昆%唐北沙%嚴新翔
NIE Li-luo%섭리락%곽기봉%장해남%장학위%왕뢰%침로%강홍%하곤%당북사%엄신상
帕金森障碍%泛素蛋白连接酶类%突变%有机化学品%荧光染料%逆转录聚合酶链反应
帕金森障礙%汎素蛋白連接酶類%突變%有機化學品%熒光染料%逆轉錄聚閤酶鏈反應
파금삼장애%범소단백련접매류%돌변%유궤화학품%형광염료%역전록취합매련반응
Parkinsonian disorders%Ubiquitin-protein ligases%Mutation%Organic chemicals%Fluorescent dyes%Reverse transcriptase polymerase chain reaction
目的 建立应用SYBR GreenⅠ实时荧光定量聚合酶链反应(Real-time PCR,RT-PCR)检测parkin基因外显子重排突变的技术平台,应用该技术对常染色体隐性遗传早发型帕金森综合征(autosomal recessive early-onset parkinsonism,AREP) 家系进行parkin基因外显子重排突变分析.方法 应用SYBR GreenⅠRT-PCR技术对32个中国AREP家系进行parkin基因外显子重排突变分析.结果 14个家系先证者存在parkin基因外显子重排突变,其中3个为纯合缺失突变、3个为复杂杂合缺失突变和8个杂合缺失突变,未发现外显子重复突变,突变主要累及第2～4号外显子.结论 建立了应用SYBR GreenⅠRT-PCR技术检测parkin基因外显子重排突变的基因检测平台;中国AREP 家系的parkin基因外显子重排突变频率为43.8%,与国外报道相似.
目的 建立應用SYBR GreenⅠ實時熒光定量聚閤酶鏈反應(Real-time PCR,RT-PCR)檢測parkin基因外顯子重排突變的技術平檯,應用該技術對常染色體隱性遺傳早髮型帕金森綜閤徵(autosomal recessive early-onset parkinsonism,AREP) 傢繫進行parkin基因外顯子重排突變分析.方法 應用SYBR GreenⅠRT-PCR技術對32箇中國AREP傢繫進行parkin基因外顯子重排突變分析.結果 14箇傢繫先證者存在parkin基因外顯子重排突變,其中3箇為純閤缺失突變、3箇為複雜雜閤缺失突變和8箇雜閤缺失突變,未髮現外顯子重複突變,突變主要纍及第2～4號外顯子.結論 建立瞭應用SYBR GreenⅠRT-PCR技術檢測parkin基因外顯子重排突變的基因檢測平檯;中國AREP 傢繫的parkin基因外顯子重排突變頻率為43.8%,與國外報道相似.
목적 건립응용SYBR GreenⅠ실시형광정량취합매련반응(Real-time PCR,RT-PCR)검측parkin기인외현자중배돌변적기술평태,응용해기술대상염색체은성유전조발형파금삼종합정(autosomal recessive early-onset parkinsonism,AREP) 가계진행parkin기인외현자중배돌변분석.방법 응용SYBR GreenⅠRT-PCR기술대32개중국AREP가계진행parkin기인외현자중배돌변분석.결과 14개가계선증자존재parkin기인외현자중배돌변,기중3개위순합결실돌변、3개위복잡잡합결실돌변화8개잡합결실돌변,미발현외현자중복돌변,돌변주요루급제2～4호외현자.결론 건립료응용SYBR GreenⅠRT-PCR기술검측parkin기인외현자중배돌변적기인검측평태;중국AREP 가계적parkin기인외현자중배돌변빈솔위43.8%,여국외보도상사.
Objective To develop a method of detection exon rearrangements in the parkin gene (PARK2) using SYBR Green Ⅰ real-time PCR and to analyze PARK2 exon rearrangement mutations in families with autosomal recessive early-onset parkinsonism (AREP) using this method. Methods Exon rearrangement in PARK2 was screened by SYBR Green Ⅰ real-time PCR in 32 families with AREP. Results Exon rearrangement mutations were found in 14 families, including 3 compound heterozygous deletions;3 homozygous deletions;and 8 heterozygous deletions. No duplication mutation was found. Hotspot for exon rearrangements clustered in exons 2 through 4. Conclusions We have developed a gene test method using SYBR Green Ⅰ Real-time PCR to detect exon rearrangements in the gene PARK2. The frequency of PARK2 mutation is 43.8% in Chinese families with AREP. This frequency is similar to reported findings in other countries.
