北京地区汉族人群21号染色体PLAC4基因上SNP位点多态性的研究  

The study of the characteristics of heterozygosity of single nucleotide polymorphism(SNP) locis in PLAC 4 gene from Han population in Beijing regions

作　　者：黄睿[1] 贾婵维[1] 贾兴元[2,3,4] 马延敏[1] 兰永连[1] 周丽颖[1] 梁毓[1] 李颖[1] 丁洁[2] 王树玉[1] 

机构地区：[1]首都医科大学附属北京妇产医院生殖医学科,北京100026 [2]首都医科大学附属北京朝阳医院实验研究中心,北京100020 [3]中国医学科学院 [4]北京协和医学院基础医学院医学遗传室

出　　处：《中国优生与遗传杂志》2013年第4期11-12,19,共3页Chinese Journal of Birth Health & Heredity

基　　金：首都医学发展科研基金;编号:2009-3130;北京市自然科学基金;编号:7092034

摘　　要：目的运用MLPA-SNP方法检测北京地区汉族人群中21号染色体上PLAC4基因的多个SNP位点,并分析其多态性的特点。方法运用多重链接探针扩增技术(MLPA),对378例北京地区汉族人群标本中PLAC4基因上5个SNP位点(rs12482116,rs12106409,rs12106401,rs4818219,rs3804026)同时进行检测分析,计算其等位基因频率及基因型频率。结果被检测的5个SNP位点均出现扩增峰(单峰或双峰),378例被检测样本中,位点rs12482116,rs12106409,rs12106401均呈单峰;位点rs4818219:112例呈双峰,266例呈单峰,杂合基因型频率0.288,位点rs3804026:40例呈双峰,338例呈单峰,杂合基因型频率0.109,两个杂合型位点与UCSC数据库提供的基因频率相比较,经χ2检验,P<0.005,有统计学差异。结论位点rs4818219,rs3804026可用于无创性产前诊断21三体的研究中,而rs12482116,rs12106409,rs12106401均为纯合型,不宜使用。应尽可能筛选出更多的杂合频率高的位点用于无创性产前诊断的研究,而MLPA-SNP可同时对多个SNP位点进行检测分析,且耗时短,是一种十分可行的方法。Objective： To study the characteristics of heterozygosity of single nucleotide polymorphism （SNP） loci in PLAC 4 gene from Han population in Beijing regions. Methods ： DNA was extracted from the nucleated cell of 378 peripheral blood samples. Five SNPs loci （rs12482116, rs12106409, rs12106401, rs4818219, rs3804026） in PLAC4 gene were determined by multiplex ligation - dependent probe amplification （MLPA）, followed by capillary electrophoresis. Results： The heterozygote frequencies of rs4818219, rs3804026 are 0. 288 and 0. 109 respectively in the population we tested. And the rest of three SNP loci are homozygotes. Compared with the gene frequencies provided by database of UCSC, significant difference （P 〈 0. 005 ） was found. Conclusions ： MLPA technology is easy, time -saving, and able to detect more than 40 targets in the same reaction. The SNPs rs4818219, rs3804026 may be potent, ial SNPs for non - invasive prenatal diagnosis of aneuploid diseases. .

关 键 词：PLAC4基因 SNP 杂合度 DNA MLPA 

分 类 号：R394.3[医药卫生—医学遗传学]