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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 detect multiple SNPs of PLAC4 gene on chromosome 21 in Han population of Beijing using MLPA-SNP method and to analyze its polymorphism. Methods Five SNPs (rs12482116, rs12106409, rs12106401, rs4818219, rs3804026) of PLAC4 gene in 378 Chinese Han population samples from Beijing area were simultaneously detected and analyzed by MLPA. Gene frequency and genotype frequency. Results All the 5 SNPs detected showed single peak or double peak. Among the 378 tested samples, the loci rs12482116, rs12106409 and rs12106401 showed a single peak. The loci rs4818219: 112 showed double peaks , 266 cases were single peak, the frequency of heterozygous genotype was 0.288, rs3804026: 40 cases were bimodal, 338 cases were single peak, the frequency of heterozygous genotype was 0.109. The two heterozygous loci and the gene provided by UCSC database Compared with the frequency, by χ2 test, P <0.005, there is a statistically significant difference. Conclusion The loci rs4818219 and rs3804026 can be used in noninvasive prenatal diagnosis of trisomy 21, while rs12482116, rs12106409 and rs12106401 are all homozygous and should not be used. As far as possible, more sites of high heterozygosity should be screened for noninvasive prenatal diagnosis. However, MLPA-SNP can detect and analyze multiple SNPs at the same time, which is very time-consuming Feasible method.