蒙古族与回族人群甘露糖结合凝集素基因启动子单体型分析  

Haplotypes of Mannose-binding Lectin Gene Covering Promoter and 5′-untranslated Regions in Mongols and Huis in China

作　　者：朱妍艳[1] 华春珍[1,2] 冷贵兰[1,2] 尚世强[3] 俞惠民[3] 

机构地区：[1]杭州师范大学临床医学院,浙江310018 [2]杭州市第二人民医院 [3]浙江大学医学院附属儿童医院

出　　处：《中国预防医学杂志》2008年第7期589-593,共5页Chinese Preventive Medicine

基　　金：杭州市科技计划重点项目(立项号2005633Q08)

摘　　要：目的分析内蒙古自治区蒙古族人群和宁夏回族自治区回族人群甘露糖结合凝集素（MBL）基因启动子区和5’端非翻译区的单核苷酸多态性（SNP）及其单体基因型。方法MBL基因SNP分析采用序列分析法；遗传学分析采用SHEsis软件。结果79例蒙古族人群中启动子-550位点H／H、H／L和L／L型分别占38．0％、45．6％和16．5％，等位基因变异频率为0．392；-221位点Y／Y和X／Y型分别占81．0％和19．0％，等位基因突变频率为0．095。69例回族人群中启动子一550位点H／H、H／L和L／L型分别占36．2％、44．9％和18．8％，等位基因变异频率为0．413；-221位点Y／Y和X／Y型分别占75．4％和24．6％，等位基因突变频率为0．123。启动子单体型有HYP、LYP和LXP3种，在蒙古族人群中的频率分别为0．608、0．297和0．095；回族人群中的频率分别为0．587、0．290和0．123。所有样本5’端非翻译区＋4位点均无突变即均为P型。蒙古族和回族-550位点和-221位点的变异频率差异无统计学意义（χ^2-550=0．131，P=0．718；χ^2-221=0．610，P=0．435）。结论（1）本研究中蒙古族和回族人群启动子单体型仅HYP、LYP和LXP3种。（2）启动子区-550位点的变异频率较高，-221位点变异频率较低，＋4位点无SNP发现。两组人群上述位点的变异频率差异无统计学意义。Objective To analyze the single nucleotide polymorphisms （SNPs） in promoter region and 5＇ - untranslated region and haplotypes of mannose - binding lectin （MBL） gene in Mongols and Huis in China. Methods SNPs in promoter region and 5＇ - untranslated region of mannose - binding lectin （MBL） gene were determined with sequence analysis method by using BigDye Mix 3730 genetic analyzer. Genetic analysis was performed with SHEsis software. Results In all 79 Mongols, the percentages of H/H type, H/L type and L/L type at site -550 were 38.0% , 45.6% and 16.5% respectively, and the variant frequency was 0. 392, while the percentages in 69 Huis were 36.2% , 44. 9% and 18.8% respectively, with a variant frequency of 0. 413. The percentages of Y/Y type and Y/X type at position -221 in Mongols were 81.0% and 19. 0% respectively with a variant frequency of 0. 095, while in Huis the percentages were 75.4% and 24. 6% respectively, and the variant frequency was 0. 123. No difference of the variant frequencies at site - 550 or - 221 between the two groups was found in this study （ χ^2-550 = 0. 131, P = 0.718 ; χ^2-221 = 0. 610, P = 0. 435 ）. No polymorphism was found at position ＋ 4 in the 5＇ - untranslated region. Three haplotypes （ HYP, LYP and LXP） were identified in the study, with frequencies of 0. 608, 0. 297 and 0. 095 respectively in Mongols, and of 0. 587, 0. 290 and 0. 123 respectively in Huis. Conclusion ①Three haplotypes （HYP, LYP and LXP） were identified in Mongols and Huis in the study. ②The frequency of point mutation in the promoter region at site -550 was higher than that at -221 in both Mongols and Huis, and no difference was found between the two groups. No SNP was found at site ＋ 4 in 5＇ - untranslated region.

关 键 词：启动子 单体基因型 甘露糖结合凝集素 

分 类 号：R394[医药卫生—医学遗传学]