This study was aimed to investigate the distribution of CD38 gene 184 locus allele frequency in chronic myeloid leukemia (CML) and its relation with genetic susceptibility of CML. 100 ceses of CML were enrolled in patient group; 200 cases of nonhematologic diseases and nontumor diseases were enrolled in control grouop. The CD38 gene 184 locus polymorphism was detected by PCR-RFLP, the difference of genotypic frequencies in patient and control groups was analyzed by x2 test and Fisher exact probability test, the risk of genotype induced leukemia was expressed by odds ratio (OR) and 95％ confidence interval (CI). The results showed that the distribution of CD38 gene 184 locus G/G,G/C, C/C genetypes was no significantly different between patients and control groups (p =0.072). The wild type C/C was used as reference, the distribution of variant G/C genetype frequency in CML group was different statisticatly from control group ( p = 0.032, OR value 0.517, 95％ CI 0.283 - 0.947 ); the C allele frequency was used as reference, the G allele frequency in CML group was higher than that in control group (p = 0.028, OR value 0.597,95％ CI 0.377 -0.94). It is concluded that the CD38 gene 184 locus G allele may be an protective gene against CML,and reduce the risk of CML relapse.%本研究分析CD38基因184位点等位基因在慢性髓系白血病(chronic myeloid leukemia,CML)中的频率分布以及与CML遗传易感性的关系,为CML遗传因素的研究莫定基础.以100例CML患者为病例组,200例非血液系统性疾病、非肿瘤疾病为对照组,采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)检测CD38基因184位点的多态性,应用x2检验和精确概率法比较各基因型频率在病例组与对照组之间的差异,用比值比(odds ratio,OR)及其95%的可信区间(confidence interval,CI)表示各基因型发生白血病的风险度.结果表明,CML组CD38基因位点G/G、G/C、C/C基因型频率与对照组比较差异无统计学意义(p=0.072),而以野生型C/C为参考,CML组变异型G/C基因型频率与对照组比较差异有统计学意义(p=0.032,其OR值为0.517,95% CI为0.283-0.9471);CML组G、C等位基因频率,以C等位基因频率为参考,CML组G等位基因频率高于对照组(p=0.028,OR值为0.597,95 % CI为0.377-0.947).结论:CD38基因184位点G等位基因可能是CML的保护性基因,有可能降低CML的发病风险.
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