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
2期
158-161
,共4页
张海南%廖冰%聂利珞%郭纪锋%王春喻%张学伟%严新翔%唐北沙
張海南%廖冰%聶利珞%郭紀鋒%王春喻%張學偉%嚴新翔%唐北沙
장해남%료빙%섭리락%곽기봉%왕춘유%장학위%엄신상%당북사
常染色体隐性遗传性早发型帕金森综合征%PINK1基因%拷贝数变异%实时荧光定量聚合酶链反应
常染色體隱性遺傳性早髮型帕金森綜閤徵%PINK1基因%拷貝數變異%實時熒光定量聚閤酶鏈反應
상염색체은성유전성조발형파금삼종합정%PINK1기인%고패수변이%실시형광정량취합매련반응
autosomal recessive early-onset Parkinsonism%PINK1 gene%copy-number variation%real-time PCR
目的 建立PINK1(PTEN-induced kinase 1)基因外显子拷贝数分析方法 ,并应用该方法 分析常染色体隐性遗传性早发型帕金森综合征(autosomal recessive early onset Parkinsonism,AREP)PINK1基因拷贝数变异(copy-number variation,CNV)的特点.方法 应用实时荧光定量聚合酶链反应(polymerase chain reaction,PCR)技术分析方法 ,对30个正常对照和22个中国AREP汉族家系先证者的PINK1基因进行外显子拷贝数分析.结果 应用实时荧光定量PCR技术完成了PINK1基因第1～8外显子拷贝数分析,获得了扩增效率和特异性均满意的反应条件及各外显子引物.所检测的AREP先证者未发现PINK1基因的外显子拷贝数变异.结论 建立了PINK1基因外显子拷贝数分析方法 .中国人AREP患者PINK1基因外显子拷贝数变异可能罕见.
目的 建立PINK1(PTEN-induced kinase 1)基因外顯子拷貝數分析方法 ,併應用該方法 分析常染色體隱性遺傳性早髮型帕金森綜閤徵(autosomal recessive early onset Parkinsonism,AREP)PINK1基因拷貝數變異(copy-number variation,CNV)的特點.方法 應用實時熒光定量聚閤酶鏈反應(polymerase chain reaction,PCR)技術分析方法 ,對30箇正常對照和22箇中國AREP漢族傢繫先證者的PINK1基因進行外顯子拷貝數分析.結果 應用實時熒光定量PCR技術完成瞭PINK1基因第1～8外顯子拷貝數分析,穫得瞭擴增效率和特異性均滿意的反應條件及各外顯子引物.所檢測的AREP先證者未髮現PINK1基因的外顯子拷貝數變異.結論 建立瞭PINK1基因外顯子拷貝數分析方法 .中國人AREP患者PINK1基因外顯子拷貝數變異可能罕見.
목적 건립PINK1(PTEN-induced kinase 1)기인외현자고패수분석방법 ,병응용해방법 분석상염색체은성유전성조발형파금삼종합정(autosomal recessive early onset Parkinsonism,AREP)PINK1기인고패수변이(copy-number variation,CNV)적특점.방법 응용실시형광정량취합매련반응(polymerase chain reaction,PCR)기술분석방법 ,대30개정상대조화22개중국AREP한족가계선증자적PINK1기인진행외현자고패수분석.결과 응용실시형광정량PCR기술완성료PINK1기인제1～8외현자고패수분석,획득료확증효솔화특이성균만의적반응조건급각외현자인물.소검측적AREP선증자미발현PINK1기인적외현자고패수변이.결론 건립료PINK1기인외현자고패수분석방법 .중국인AREP환자PINK1기인외현자고패수변이가능한견.
Objective To establish a method for analyzing the PTEN-induced kinase 1 gene (PINK1)exon copy number and apply it to the analysis of PINK1 gene exon copy number variation (CNV) in patients with autosomal recessive early-onset Parkinsonism (AREP). Methods Real-time PCR was used to analyze the exon copy number in 22 probands with AREP from unrelated Chinese Han families and 30 healthy controls. Results Copy numbers of exons 1-8 of the PINK1 gene were analyzed, and satisfactory reaction conditions and primers for exons of the PINK1 gene were obtained. No exon CNV in the PINK1 gene was detected in this group. Conclusion An analytical method for PINK1 gene exon copy number was established. The exon CNV in the PINK1 gene was rare in Chinese patients with AREP.
