中文摘要：

目的探讨多巴胺转运体基因1（DAT1）3’端40bp VNTR多态性与新疆省维吾尔族异常体液型癌症的相关性。方法按维吾尔医将癌症患者分为4种体液型,采用聚合酶链式反应（PCR）和VNTR多态性分析技术对新疆省维吾尔族47例异常黑胆质型癌症患者、26例其它异常体液型癌症患者和57例正常对照组DAT1多态性进行检测,比较各组间等位基因和基因型频率分布的差异。结果（1）所测人群中,DAT1 VNTR多态性表现出6～11倍重复的6种等位基因,其中最为常见的等位基因为10倍重复的480bp片段,其基因频率为90.4%。共检出6种基因型,其中最常见的基因型为480bp/480bp,占80.7%。（2）DAT1 VNTR10倍重复等位基因及10/10基因型个体患异常黑胆质型癌症的发病风险与非10倍重复等位基因和非10/10基因型个体差异无统计学意义（P=0.158,OR=1.994,95%CI为0.754～5.275;P=0.138,OR=2.143,95%CI为0.772～5.947）;异常黑胆质型癌症患者和其它异常体液型癌症患者的DAT1 VNTR等位基因及基因型频率的差异均无显著性（P=0.729;P=0.782）。结论DAT13’端40bp可变串联重复多态性可能与维吾尔医异常体液型癌症易感性无关。

英文摘要：

Objective This study was to investigate the relationship between the 40bp VNTR polymorphism of dopamine transporter gene（DAT1） and cancer with Uighur medicine abnormal Hilit on Chinese Uighur population of Xinjiang province. Methods Divided the caner patients into four body fluids according to Uighur medicine theory,the polymerase chain reaction and VNTR polymorphism technique was employed to detect genotype and allele frequencies of a 40 bp VNTR polymorphism situated in 3’untranslated region of the DAT1 gene in 47 cancer patients with abnormal black Savda,26 caner patients with other abnormal Hilit and 57 normal control subjects in Uighur population of Xinjiang Province. Results （1） In our sample,the repeat numbers of 40 bp were 6 to 11 （ PCR product length of 320 bp to 520 bp）and 10-repeats allele（480 bp） detected was the dominant allele of DAT1 gene polymorphisms with the allele frequency 90. 4% . Six kinds of genotype were detected in this study and the genotype 480 bp /480 bp was the most common genotype with genotype frequency 80. 7% . （2） The susceptibility to caner patients with abnormal black Savda among the subjects with 10 repeat （ R） allele and 10 /10 genotypes and the subjects with non-10 repeat（R） allele and non-10 /10 genotypes were similar（ P = 0. 158,OR = 1. 994,95% CI = 0. 754 - 5. 275; P = 0. 138,OR = 2. 143,95% CI = 0. 772 - 5. 947 ）. No significant differences for the genotype frequency or the allele frequency of the 40bp VNTR polymorphism of DAT1 were revealed between caner patientswith abnormal black Savda and caner patients with other abnormal Hilit（P = 0. 729,P = 0. 782）. Conclusion The 40bp VNTR polymorphism of DAT1 may not be correlated to the susceptibility to cancer with Uighur medicine abnormal Hilit.