中文摘要：

目的：探讨维生素 D 受体（ⅤDR）基因ApaⅠ、BsmⅠ位点多态性与新疆汉族、哈萨克族儿童超重/肥胖易患性的关系。方法2009年5—6月在新疆伊犁哈萨克自治州各县、市、乡采用整群抽样的方法，抽取8所小学中7～12岁超重/肥胖学龄儿童250例为病例组，选取同时期年龄、性别与病例组匹配的非超重/肥胖健康学龄儿童255例为对照组，采用聚合酶链反应-限制性片段长度多态性（PCR - RFLP）方法，检测ⅤDR 基因ApaⅠ、BsmⅠ位点多态性。结果汉族与哈萨克族健康学龄儿童ApaⅠ、BsmⅠ位点基因型分布及等位基因频率比较，差异均有统计学意义（P ＜0.05）。对照组与病例组汉族儿童ApaⅠ位点等位基因频率比较，差异有统计学意义（P ＜0.05）；对照组与病例组哈萨克族儿童ApaⅠ位点基因型分布及等位基因频率比较，差异均无统计学意义（P ＞0.05）。对照组与病例组汉族及哈萨克族儿童BsmⅠ位点基因型分布及等位基因频率比较，差异均无统计学意义（P ＞0.05）。对照组与病例组汉族及哈萨克族儿童两位点突变情况比较，差异均无统计学意义（χ2汉族＝3.73，P ＝0.15；χ2哈萨克族＝0.29，P ＝0.96）。结论ⅤDR 基因ApaⅠ、BsmⅠ位点多态性分布存在民族差异；ApaⅠ位点多态性与新疆哈萨克族超重/肥胖学龄儿童无相关性，而与新疆汉族超重/肥胖学龄儿童相关；BsmⅠ位点多态性与新疆汉族、哈萨克族超重/肥胖学龄儿童均无相关性。

英文摘要：

Objective To evaluate the relationship between ApaⅠ and BsmⅠ polymorphisms of vitamin D receptor （ⅤDR）gene and susceptibility to overweight/ obesity among Han and Kazakh children in Xinjiang. Methods 8 primary schools from cities,counties and townships of Xinjiang Ili Kazak Autonomous Prefecture were selected with the cluster sampling method between May to June in 2009. 250 overweight/ obese children aged 7 years to 12 years were included in case group,and 255 age- and gender - matched healthy children were included in control group. The ApaⅠ and BsmⅠ polymorphisms of ⅤDR gene were detected by using polymerase chain reaction - restriction fragment length polymorphism（PCR - RFLP）method. Results There were statistically significant differences in the distribution of ApaⅠ and BsmⅠ genotype and allele gene frequency between the Han healthy controls and Kazakh healthy controls,respectively（P 0. 05）. There was no significant difference in the mutation of ApaⅠ and BsmⅠ among Kazakh and Han children between control group and case group（χ2Han = 3. 73,P = 0. 15;χ2Kazakh = 0. 29,P = 0. 96）. Conclusion There are significant differences in the distribution of ApaⅠ and BsmⅠ polymorphisms of ⅤDR gene among groups with different nationalities. ApaⅠ polymorphism shows no correlation with the susceptibility to overweight/ obesity among Kazakh school - age children in Xinjiang,but shows association with the susceptibility to overweight/ obesity among Han school - age children. BsmⅠ polymorphism shows no correlation with the susceptibility to overweight/ obese among Han and Kazakh school - age children in Xinjiang.