运用二重PCR和DNA芯片技术检测ABO基因型  

ABO Genotyping by Duplex Amplification and Oligonucleotide Arrays Assay

作　　者：李莉[1] 李成涛[1] 李荣宇 孙美倩 柳燕[1] 李瑶 林源[1] 阙庭志[1] 程大霖[1] 严品华[1] 方建新[1] 赵珍敏[1] 沈敏[1] 杜志淳[1] 

机构地区：[1]司法部司法鉴定科学技术研究所,上海200063 [2]上海博星基因芯片有限公司,上海200092

出　　处：《法医学杂志》2004年第4期193-196,F003,共5页Journal of Forensic Medicine

基　　金：国家科技部"十五"攻关项目课题(2001BA801B03)

摘　　要：目的以玻片为载体,用寡核苷酸探针杂交技术检测ABO基因型。方法根据ABO基因座外显子6和外显子7的3个SNP点的序列分布特征设计4条寡核苷酸探针,制成分型芯片。将待测样品DNA用末端标记了Cy5的引物进行二重PCR扩增,产物与芯片上的探针进行杂交,根据杂交产生的荧光信号确定样品的ABO基因型。结果利用ABO芯片,可对血斑、毛发等微量检材进行ABO基因型检测。对115名汉族无关个体的调查表明,ABO基因型的分布符合Hardy-Weinberg平衡,等位基因杂合度观察值和期望值分别为0.591、0.616,多态信息含量为0.544,二联体和三联体非父排除率分别为0.188、0.334,个体识别能力为0.777。结论通过DNA芯片检测ABO基因型的技术适用于法医学样本,可满足高通量的检测需求。Objective ABO genotyping for forensic identification by oligonucleotide chip. Methods Oligonucleotide microarrays which could detect 3 different SNPs in exon 6 and exon 7 for ABO genotyping were used. Population studies on ABO was carried out in a sample of 115 unrelated Chinese Han individuals. The method was also applied to cases. Results The technique could identify 6 genotypes of ABO system. According to the results of population studies, no significant deviations from Hardy-Weinberg equilibrium could be found. The observed and expected heterozygosities were 0.591 and 0.616 respectively. The polymorphic information content was 0.544. The average exclusion probabilities in buos and trios was 0.188 and 0.344 respectively. The discrimination power is 0.777. Conclusion The data and case application demonstrated that ABO typing by oligonucleotide probe arrays was a useful technique for paternity testing and individual identification.

关 键 词：ABO基因型 DNA芯片 个体识别 亲子鉴定 

分 类 号：D919.4[医药卫生—法医学]