温州地区急性白血病儿童CYP3A5基因多态性研究

目的：探讨温州地区汉族人群细胞色素P450-3A5（CYP3A5）基因多态性与儿童急性白血病（AL）易感性的关系。方法：采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）技术和PCR产物测序方法,检测119例AL患儿（病例组）和106例对照儿童（对照组）的CYP3A5-6986位点基因型分布及等位基因频率,并结合既往发表的文献进行温州与苏州不同地区间的比较。结果：1对照组与急性淋巴细胞白血病（ALL）组、急性髓细胞白血病（AML）组的基因型分布差异存在统计学意义（P〈0.05）。2病例组G位点的基因频率高于对照组（P〈0.05）。3按性别因素分层分析,儿童白血病的遗传易感性存在性别差异。4温州、苏州两个地区AL患儿的基因型分布差异无统计学意义（P〉0.05）。结论：CYP3A5基因6986位点AG多态性可能与中国南方汉族人群男性白血病患儿的遗传易感性相关联。

The relationship between the CYP3A5 genetic polymorphisms and susceptibility to childhood acute leu- kemia

Objective： To study the relationship of CYP3A5-6986A/G polymorphism and acute leukemia in Han population of southern Chinese. Methods： The methods ofpolymerase chain reaction-restriction fragment length polymorphism and PCR sequence were used, the polymorphism of the CYP3A5 gene was detected in both 119 acute leukemia patients and 106 control subjects. Results：① The differences in the distribution of genotype of CYP3A5-6986A/G between the patients and the controls were significant. ②The genetic frequency of G allele in ALL and in AML were all higher than that in controls. ③The results by gender stratification showed that the boy individuals with CYP3A5 variant genotype were more susceptible to childhood leukemia with a 2.65-fold increased risk compared to the individuals with wild genotype. ④There was no variation of CYP3A5-6986A/G polymorphism on acute leukemia patients between Wenzhou and Suzhou area. Conclusion： The CYP3A5 genetic polymorphism may be associated with the susceptibility of acute leukemia in Han population of male southern Chinese.