目的：研究CTNNA1基因启动子区异常甲基化与急性髓系白血病（AML）发生的相关性。方法选取180例AML患者骨髓标本及24例健康供者骨髓标本，通过甲基化特异性 PCR方法（MS‐PCR）进行CTNNA1基因启动子区异常甲基化阳性率进行检测，提取基因组DNA ，设计硫化测序 PCR（BS‐PCR）引物及甲基化特异性PCR（MS‐PCR）引物，进行PCR扩增及测序分析。结果5例健康者标本及5例AML患者标本DNA经硫化且BS‐PCR测序分析，其健康者标本甲基化率分别为1．5％、1．0％、1．0％、1．5％、1．0％，而AML患者CTNNA1甲基化率分别为92．0％、78．5％、86．0％、56．0％、90．0％，远远高于健康供者。MS‐PCR分析结果显示，CTNNA1基因在24例健康人中呈完全非甲基化状态，在180例A M L患者中其甲基化阳性率为37．2％（ P＜0．05）。结论 C T‐NNA1基因启动子区异常甲基化可能参与AML的发生，为疾病的早期监测提供分子理论依据。%Objective To study the correlation between the aberrant methylation of CTNNA1 gene promoter region with acute myeloid leukemia(AML) .Methods The bone marrow samples from 180 patients with AML and 24 healthy donors were collected in this study .The methylation‐specific polymerase chain reaction (MS‐PCR) method was adopted to detect the positive rate of aberrant methylation in CTNNA1 gene promoter region .The genome DNA was extracted ,and the primers of sulfuration sequencing PCR(BS‐PCR) and MS‐PCR were designed to perform the PCR amplification and sequencing analysis .Results DNA in 5 healthy samples and 5 AML samples was vulcanized and sequenced by BS‐PCR ,the methylation rates in the healthy samples were 1 .5% ,1 .0% ,1 .0% ,1 .5% and 1 .0%respectively ,while the methylation rates of the CTNNA1 gene in AML patients were 92 .0% ,78 .5% ,86 .0% ,56 .0%and 90 .0% respectively ,which were much higher than the healthy donors .The MS‐PCR analysis results showed that the CTNNA1 gene presented as the unmethylated status in healtyh donors ,the methylation rate in 180 AML patients was 37 .2% (P<0 .05) .Conclusion The aberrant methylation of the CTNNA1 gene promoter region is perhaps in‐volved in the occurrence of AML ,which provides the molecular theoretical basis of early monitoring disease .
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