寡核苷酸芯片技术用于检测过氧化物酶体活化物激活受体基因多态性

 通过寡核苷酸芯片技术检测PPARα基因Leu162Val、Val227Ala多态性和PPARγ Pro12Ala的基因多态性，建立一种快速、简便、准确的方法，为研究非酒精性脂肪性肝病的发病机制、临床诊断和治疗提供依据.收集人体外周血标本，提取DNA进行PCR扩增，设计相应的探针和引物，制备检测芯片，PCR产物与芯片杂交后，扫描芯片并分析结果.PCR产物进行测序验证.寡核苷酸芯片技术检测PPARα基因Leu162Val、Val227Ala多态性和PPARγ Pro12Ala基因多态性结果与测序结果一致.寡核苷酸芯片技术检测非酒精性脂肪性肝病(NAFLD)密切相关的PPAR基因多态性快速、准确，值得临床推广和应用.

Detection of Polymorphism of Peroxisome Proliferator Activated Receptor (PPAR) Gene by Oligonucleotide Microarray

The polymorphisms of peroxisome proliferator activated receptor gene including Leu162Val variant of PPARα,Val227Ala variant of PPARαand Pro12Ala variant of PPARγin non-alcoholic fatty liver disease(NAFLD) were analyzed byoligonucleotide microarray. The genomic DNA from body peripheral blood specimens was isolated and subjected to PCR. An oligonucleotide microarray system which included oligonucleotide synthesis, preparation of the oligonucleotide microarray, hybridization and signal detection for analysis of the polymorphisms was fabricated. The relevant mutation was confirmed by DNA sequencing analysis. The sequence analysis were concordance with the oligonucleotide microarray based methods. The oligonucleotide microarray of PCR product permits a rapid and accurate screening of the polymorphisms of peroxisome proliferator activated receptor gene in NAFLD.