新疆维吾尔族人自然长寿与HLADRB、ACE基因的关联分析  

Association of polymorphisms of HLA-DRB gene and ACE gene with natural longevity in the Xin Jiang Uigur People

作　　者：玛依拉.吾甫尔 周文郁[2] 顾明亮[2] 方鸣武[2] 程祖亨[1] 邱长春[2] 

机构地区：[1]新疆医科大学第一医院心内科,新疆乌鲁木齐830054 [2]中国医学科学院中国协和医科大学基础医学研究所医学分子生物学国家重点实验室,北京100005

出　　处：《基础医学与临床》2005年第6期492-497,共6页Basic and Clinical Medicine

基　　金：国家自然科学基金(30160089);美国中华医学基金(CMB96-657)

摘　　要：目的探讨人类白细胞抗原(HLA)DRB基因及血管紧张素转换酶(ACE)基因多态性与新疆维吾尔族人自然长寿的关系。方法研究样本分为4组:第1组年龄≥100岁;第2组年龄为90～99岁;第3组年龄为70～90岁;第4组为65～70岁自然死亡者。分别应用聚合酶链反应序列特异引物法(PCRSSP)、单链构象多态性(SSCP)分析和直接测序技术对各组进行基因分型。结果百岁组HLADR1的频率明显高于对照组(分别为9.5%和1.9%,P<0.05);HLADR6(14)的频率也明显高于对照组(分别为9.5%和0.9%,P<0.05);HLADR6的频率明显高于其余3组;HLADR4的频率明显低于对照组(分别为9.5%和23.6%,P<0.05);HLADR9的频率明显低于对照组(分别为1.2%和9.4%,P<0.05)。相关分析显示:HLADR1及ACE基因的D等位基因与长寿呈正相关,而HLADR9呈负相关。结论HLADRB基因的DR1等位基因和ACE基因的等位基因D对长寿可能有保护作用;HLADRB基因的DR9等位基因可能是不利于长寿的危险因素,HLADRB基因多态性和ACE基因多态性相互作用对长寿有协同作用。Objectives To explore the potential relationship among of the polymorphism of HLA antigens, distribution of I/D polymorphisms of ACE gene, and natural longevity in the Xin Jiang Uygur nationality people. Methods The study population was divided into four groups: over 100 years; 90 to 99 years; 70 to 90 years and 65 to 70 years. Using PCR-SSP, SSCP(single strand conformation polymorphism) and direct sequencing technique separately to genotype each group. Results The frequency of HLA-DR_ 1 allele was significantly higher in the centenarian group, as compared with that of the control group (9.5% and 1.9%,P<0.05), The frequency of HLA-DR_ 6(14) allele also was significantly higher than that of the control subjects (9.5%and 0.9%,P<0.05), while the frequency of HLA-DR_ 4 and DR_ 9 in the centenariansubjectswere 9.5% and 1.2%, that were significantly lower than that of the control subjects (23.6% and9.4%,P<0.05, respectively). Conclusion Our data suggest that HLA-DR_ 1,DR_ 6(14)and ACE D allele may be an active factor, while the DR_ 9 may be the risk factor for human longevity,HLA- DR_ 1, DR_ 6(14)and ACE D allele may be involved in human longevity in Uyger population.

关 键 词：新疆维吾尔族人 长寿 关联分析 HLA-DR6 HLA-DRB基因 血管紧张素转换酶 ACE基因多态性 人类白细胞抗原 单链构象多态性 HLA-DR4 HLA-DR9 序列特异引物 聚合酶链反应 D等位基因 对照组 研究样本 基因分型 测序技术 相关分析 

分 类 号：R394[医药卫生—医学遗传学] R161.7[医药卫生—基础医学]