β2肾上腺素能受体基因单体型与新疆哈萨克族超重肥胖  

The Relationship between β2 Adrenoceptor Gene Haplotype and Overweight/Obesity Kazakans in Xinjiang

作　　者：李南方[1] 姚晓光[1] 骆秦[1] 刘辉[1] 周玲[1] 李涛[1] 

机构地区：[1]新疆维吾尔自治区人民医院高血压科,新疆维吾尔自治区高血压研究所,乌鲁木齐830001

出　　处：《国际遗传学杂志》2008年第5期329-333,共5页International Journal of Genetics

基　　金：国家自然科学基金资助项目（30260038,30240045）

摘　　要：目的研究β2肾上腺素能受体基因单体型与新疆哈萨克族超重肥胖的关系。方法对411例样本（超重肥胖组251例，正常体重组160例），用PCR-RFLP分别检测β2AR基因编码区46、79、491、523四个位点多态性，采用最大期望值为基础的最大似然法估算各种单体型与超重肥胖的关系。结果该群体β2AR基因4个位点未检测到有意义的连锁不平衡。存在8种单体型，最常见单体型为H1（A-C-C-C），占33．7％，其次为H2（C-G-C-A），占23．7％，两者间的区别在于46A〉G和523C〉A的差异。H1、H2、H3和H8单体型在超重肥胖组分布较多。结论岛AR基因中H1、H2、H3和H8单体型可能与新疆哈萨克族超重肥胖相关。Objective To investigate the possible relationship between β2 adrenoceptor gene haplotype and overweight/obesity Kazaks in Xinjiang. Methods 411 Kazakans were collected, by using the PCR-RFLP and maximum likelihood estimation （MLE） , the fot/r polymorphic loci of β2 adrenoceptor gene were detected, then explored the possible relationship between β2 adrenoceptor gene haplotype and overweight/obesity people in a case - control study. Four polymorphisms 46A 〉 G,79G 〉 C, 491C 〉 T, 523C 〉 A and eight major haplo- types were analyzed. Results Four polymorphic loci of β2 adrenoceptor gene were not associated with over- weight/obesity people individually except the Argl6 of46A 〉 G.. When the pair wise linkage disequilibrium of four SNPs were examined, no significant linkage disequilibrium were detected with each other. Eight haplotypes from 46A 〉 G, 79 G 〉 C, 491 C 〉 T, 523C 〉 A polymorphisms of β2 adrenoceptor gene existed in the subjects and HI （A-C-C-C） ,which took 33.7% was the most frequent, the secondary was H2 （C-G-C-A） , which took 23.7%, the difference between these two haplotypes was 46A 〉 G and 523 C 〉 A. The frequency, of haplotype H1 （A-C-C-C）, H2 （ G-C-C-A）, H3 （A-C-C-A） and H8 （A-G-C-A） were significantly higher in overweight/o- besity groups. Conclusion The presenstudysuggests that haplotype H1, H2, H3 and H8 derived four polymorphic loci maybe account for overweight/obesity Kazakans of Xinjiang.

关 键 词：Β2肾上腺素能受体 哈萨克族 单体型 连锁不平衡 

分 类 号：R544.1[医药卫生—心血管疾病]