PINK1基因外显子拷贝数分析方法的建立及应用  

Establishment and application of an analytical method for PINK1 gene exon copy number

作　　者：张海南[1,2] 廖冰[1] 聂利珞[1] 郭纪锋[1] 王春喻[2] 张学伟[1] 严新翔[1] 唐北沙[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]湘雅二医院神经内科

出　　处：《中华医学遗传学杂志》2010年第2期158-161,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究发展计划“973计划”项目（2006cb500700）;国家863高科技研究发展计划项目（2004AA227040,2006AA02A408）;国家自然科学基金（30370515,30570638,30770735）

摘　　要：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 earlyonset 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。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.

关 键 词：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 

分 类 号：R440[医药卫生—诊断学]