中文摘要：

目的探讨脂蛋白脂酶（lipoprotein lipase,LPL）基因PvuⅡ酶切位点多态性在塔克拉玛干沙漠腹地健康维吾尔族人群中的分布特征及其与身体测量和血生化指标的相关性,并与不同种族人群进行比较。方法采用PCR-RFLP方法检测99例健康维吾尔族人群（男性38例,女性61例）LPL基因PvuⅡ酶切位点的多态性。结果新疆99例健康维吾尔族人群中以P＋等位基因多见,频率（52.02%）高于P-等位基因频率（47.98%）,三种基因型中以P＋P-基因型最为多见（61.62%）,其次为P＋P＋基因型（21.21%）,最低是P-P-基因型（17.17%）,且各基因型和等位基因频率在男女中分布无显著性差异（P〉0.05）;男性中P-P-基因型组空腹血糖水平显著高于P＋P＋和P＋P-基因型组,各基因型与空腹血糖有显著性差异（χ~2=3.411,P〈0.05）,在女性中P-P-基因型组总胆固醇水平显著高于P＋P-和P＋P＋基因型组,各基因型与总胆固醇有显著性差异（χ~2=4.669,P〈0.05）,其他各项身体测量和生化指标均未见显著性差异（P〉0.05）;而LPL基因PvuⅡ酶切位点多态性在维吾尔族人群中的分布与海南汉族人群、大连汉族人群、郑州汉族人群、海南黎族人群等不同民族人群比较均存在显著差异（P〈0.01,P〈0.05）;与日本、中国汉族、韩国、阿拉伯、土耳其等不同种族人群比较也均存在显著差异（P〈0.01,P〈0.05）,而与芬兰和印度人群比较的差异无显著性（P〉0.05）。结论 LPL基因PvuⅡ酶切位点P-P-基因型和P＋等位基因在健康维吾尔族人群中的分布可能与空腹血糖、总胆固醇等血脂水平相关联。

英文摘要：

Objectives To investigate the distributional characteristics of lipoprotein lipase（ LPL） gene polymorphism in healthy Uyghur residents in the interland of Tarim desert in Xinjiang and to investigate the correlation of LPL gene polymorphism with their body measurements and blood biochemical indicators; and to compare the distribution of LPL gene polymorphism in this study with the researches in other area and ethnic groups. Methods The distribution of LPL gene polymorphism at PvuⅡrestriction enzyme cutting site in 99 healthy Uyghurs（ 38 male and 61 female） was detected by PCR- RFLP method. Results The frequency of P ＋ allele and P- allele was 52. 02% and47. 98%,respectively; the frequency of P ＋ P- genotype,P ＋ P ＋ genotype and P- P- genotype was 61. 62%,21. 21% and 17. 17%,respectively; there was no significant difference on the frequency of genotype and allele between men and women（ P 0. 05）. The fasting glucose level of men with P- P- genotype was significantly higher than that with P ＋ P ＋ and P ＋ P- genotypes（ χ~2= 3. 411,P 0. 05）; the blood total cholesterol level of women with P-P- genotype was significantly higher than that with P ＋ P- and P ＋ P ＋ genotype（ χ~2= 4. 669,P 0. 05）. The distribution of LPL gene polymorphism at PvuⅡrestriction enzyme cutting site were different among studies in different areas and ethnics. Conclusion The distribution of P- P- genotype and P ＋ allele of LPL gene at restriction enzyme cutting site PvuⅡin Uyghur population might be associated with fasting blood glucose,total cholesterol and other blood lipids.