α2-Heremans-Schmid糖蛋白基因多态性与其血清含量的关联研究  

Association of α2-Heremans-Schmid glycoprotein gene polymorphisms with its serum levels

作　　者：王艳[1,2] 侯艳[3] 王春枝[1] 朱晓辉[2] 朱丽娜[1] 杨晓[1] 曹诚[2] 

机构地区：[1]北京军区总医院附属八一儿童医院临床遗传学中心,100700 [2]军事医学科学院生物工程研究所 [3]包头市第三医院

出　　处：《中华医学遗传学杂志》2010年第3期310-315,共6页Chinese Journal of Medical Genetics

基　　金：病原微生物生物安全国家重点实验室开放基金（SKLPBS0901）;中国863高技术研究发展计划（2005AA218080、2006AA022203）

摘　　要：目的 探讨α2-Heremans-Schmid糖蛋白（α2-Heremans-Schmid glycoprotein,AHSG）基因单核苷酸多态（single nucleotide polymorphism,SNP）与其血清含量的相关性及其参与调节基因转录的机制.方法 对AHSG基因进行重测序,构建连锁不平衡模式,选择标签SNP在192名北京汉族和424名广州汉族个体中进行了基因分型;应用报告基因荧光素酶活性检测不同等位基因的转录活性;应用酶联免疫吸附试验检测北京地区192名个体血清中AHSG的浓度.结果 AHSG重测序共检出8个SNP,连锁不平衡分析显示广州和北京地区人群的连锁不平衡模式不同,但选择的标签SNP和具有潜在功能的SNP的等位基因和基因型频率分布在两组人群中差异无统计学意义.荧光素酶活性实验结果显示,AHSG基因启动子区-799A等位基因比-799T等位基因的转录活性高;多态性位点rs2248690、rs4917和rs4918与血清中AHSG的含量存在相关性;多元回归分析结果表明只有rs2248690与AHSG含量存在相关性.结论 位于AHSG基因启动子区的rs2248690位点与其血清中含量存在相关性.Objective To identify the single nucleotide polymorphisms （SNPs） of the α2-Heremans-Schmid glycoprotein （AHSG） gene and assess their association with the AHSG serum level. Methods The SNPs of the AHSG gene were identified from 30 unrelated Han individuals from Guangzhou area by resequencing. Linkage disequilibrium （LD） was performed to observe the linkage disequilibrium pattern. Then tagSNPs were genotyped in 192 Han individuals from Beijing and 424 Han individuals from Guangzhou area. Finally, luciferase reporter gene assay was performed to determine whether the SNPs affected the promoter activity. Serum AHSG concentrations were measured in the 192 subjects from Beijing using ELISA. Results Eight SNPs were detected in total. The linkage disequilibrium profile in the Guangzhou Han population was different from that in the Beijing Han population. However, the allele and genotype frequencies of tagSNPs between the two Han populations were not significantly different. The reporter gene assay showed that the - 799A allele had significantly higher promoter activity than the - 799T allele. Multiple regression analysis revealed that only the rs2248690 SNP was an independent contributor to serum AHAG concentration. Conclusion The rs2248690 SNP in the promoter region of the AHSG gene might affect the AHSG gene transcription.

关 键 词：α2-Heremans-Schmid糖蛋白 单核苷酸多态性 血清浓度 关联研究 

分 类 号：R394[医药卫生—医学遗传学]