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1、新型亚甲基四氢叶酸还原酶单核苷酸多态性研究方法检测恶性血液病易感性作者：陈宝安 姜妮 祭美菊 侯鹏陆祖宏 高冲 丁家华 ,孙耘玉 王骏 程坚 赵刚【摘要】 本研究探讨一种新型亚甲基四氢叶酸还原酶单核苷酸多态性(SNP)检测方法，并用其检测恶性血液病遗传易感性。根据cDNA芯片原理制作一种目的基因芯片，利用双色荧光探针杂交进行SNP位点检测，测序法对该芯片检测结果的准确性进行验证,并以此对来自中国江苏地区的157例健康对照和127例恶性血液病患者(30例多发性骨髓瘤，28例非霍奇金淋巴瘤，22例急性淋巴细胞白血病，40例急性髓
2、系白血病，7例慢性髓系白血病)的MTHFR基因C677T多态位点进行检测。结果表明，为野生型、杂合型和突变型的叠加荧光分别显示为绿色、黄色和红色。测序结果与芯片结果吻合。677C和677T在病例和对照组的基因频率分别为%、%、%和%，差异有显著性。677TT基因型发生MM相对风险明显增加。结论：本芯片检测方法准确、高通量且价格低廉，适用于大规模样本SNP调查；C677T多态改变影响恶性血液病的发病风险。677TT基因型是MM的易感因素。【关键词】单核苷酸多态性；基因芯片；双色荧光杂交；亚甲基四氢叶酸还原酶；恶性血液病ANewM
3、ethodfor,10-MethylenetetrahydrofolateReductaseSingleNucleotidePolymorphismsGenotypingUsedtoStudySusceptibilityofHematologicalMalignancyAbstractTheaimofthisstudywastosetupanewmethodfor,10-Methylenetetrahydrofolatereductase(MTHFR)singlenucleotidepolymorphisms(SNP)geno
4、typing,andtoinvestigatethehereditarysusceptibilityofhematologicalmalignancy.PreparedanaimedgenemicroarraybasedoncDNAmicroarraytheory,dual-colorfluorescenecehybri-dizationwasusedtodetectSNPloci,andDNAsequencingwasperformedtoconfirmtheresults.TheMTHFRC677TSNPlociof15c
5、ontrolsand12patientswithhematologicalmalignancies(30multiplemyeloma,non-Hodgkin′slymphoma,acutelymphoblasticleukemia,0acutemyeloidleukemia,chronicmyeloidleukemia)fromJiangsuprovinceweredetected.Theresultsshowedthatafteroverlapping,homozygouswildtype,heterozygotetype
6、andhomozygousmutanttypeyieldedgreen,yellowandredfluorescence,respectively.DNAsequencingvalidatedtheseresults.Theallelefrequencyof77Cand77Tinpatientsandcontrols%%,%%respectively,showingstatisticallysignificantdifference(χ2=,P=).77TTgenotypeshowedasignificantlyhigherr
7、iskofMM(OR=;5%CI=;P=).Itisconcludedthatthismicroarray-basedmethodisaccurate,high-throughputandinexpensive,suitableforSNPgenotypinginalargenumbeerofindividuals.C677TpolymorphismsinfluencetheriskofhematologicalgenotypeissusceptivetoMM.Keywordssinglenucleotidepolymorph
8、ism;genemicroarray;dual-colorfluorescenecehybridization;,10-methylenetetrahydrofolatereductase;hematologicalmalignancy染色体DNA序列的某个位点上存在的单个碱
