摘要
[目的]探讨芳烃受体AHR基因多态性与成人急性白血病遗传易感性的关系。[方法]采用1:1配对病例-对照研究的方法,应用PCR-RFLP和AS-PCR技术,分析与比较了136对汉族成人急性白血病病例与对照的芳烃受体基因1549C→T,1661G→A,1708G→A 3个位点的基因多态性,及AHR基因多态性与成人急性白血病易感性的关系。[结果]AHR 1549C→T和1708G→A位点的突变基因型在对照组与病例组中都为0;AHR1661G→A位点A突变等位基因在对照组和病例组中的分布频率分别为33%和43%,差异有显著性(X2=5.261 9,P=0.021 8,OR=1.501 4,95% CI:1.060 2-2.126 2);AHR 1661G→A位点A突变基因型(A/A+G/A)频率在病例与对照组间的分布差异有显著性(X2= 10.852 6,P=0.001 0,OR=2.260 1,95%CI:1.386 5-3.684 2);按性别分层可见该差异主要存在于女性(X2=11.756 5, P=0.006 0,OR=3.607 8,95%CI:1.708 8-7.617 2)。[结论]AHR可能是成人急性白血病的易感基因,携带AHR 1661 位点突变基因型(A/A+G/A)者可能增加成人急性白血病、尤其是女性急性白血病的危险性。
[Objective] To study the relationship between polymorphisms of aryl hydrocarbon receptor（ AHR ） and the susceptibility to aduh acute leukemia in Chinese Han population with case-control study. [ Method ] Genotypes were determined in 136 patients with acute leukemia and 136 age-and sex-matched controls by PCR-RFLP analysis for 1549C→T and 1708G→A and AS-PCR analysis for 1661G→A. [ Results ] It was shown that no mutant genotypes were found for 1549C→T and 1708G→A of AHR. There was a significant difference in the frequency of AHRI661G→A at A locus mutant allele between cases and controls （ 23 = 5.261 9, P = 0.021 8, OR = 1.501 4, 95% CI： 1.060 2-2.126 2 ）. The frequency of the AHRI661G→A A mutant genotypes（ A/A＋G/A ）was significantly different between cases and controls （23 = 10.852 6, P= 0.001 0, OR = 2.260 1,95% CI： 1.386 5-3.684 2 ）. The difference described above was mainly existed in females （ 23 = 11.756 5, P = 0.006 0, OR = 3.607 8, 95% CI： 1.708 8-7.617 2 ）. [ Conclusion ] The AHR polymorphisms may he related with the susceptibility to adult acute leukemia, the risk of adult acute leukemia increases in carriers with mutant genotypes at AHR 1661 locus （ AIA＋GIA ）, especially in females in Chinese Han population.
出处
《环境与职业医学》
CAS
北大核心
2005年第5期388-391,共4页
Journal of Environmental and Occupational Medicine
基金
江苏省医学科研基金(编号:H200538)
东南大学国家自然科学基金预研项目(编号:XJ0425171)
江苏省研究生创新项目(苏教研[2005]7号)
