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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。
Objective To investigate the relationship between human leukocyte antigen (HLA) DRB gene and angiotensin converting enzyme (ACE) gene polymorphism and the natural longevity of Xinjiang Uygur people. Methods Study samples were divided into 4 groups: group 1, age ≥100 years; group 2, age 90 to 99 years; group 3, age 70 to 90 years; group 4, 65 to 70 years of natural death. The genotypes of each group were genotyped by polymerase chain reaction sequence specific primer (PCRSSP), single strand conformation polymorphism (SSCP) analysis and direct sequencing. Results The frequency of HLADR1 in centenarian group was significantly higher than that in control group (9.5% and 1.9% respectively, P <0.05). The frequency of HLADR6 (14) was also significantly higher than that in control group (9.5% and 0.9% ); The frequency of HLADR6 was significantly higher than the other three groups; the frequency of HLADR4 was significantly lower than that of the control group (9.5% and 23.6% respectively, P <0.05); the frequency of HLADR9 was significantly lower than that of the control group (1.2% and 9.4% , P <0.05). Correlation analysis showed that: D allele of HLADR1 and ACE gene was positively correlated with longevity, while HLADR9 was negatively correlated. Conclusion DR1 allele of HLADRB gene and allele D of ACE gene may have a protective effect on longevity. DR9 allele of HLADRB gene may be a risk factor for longevity, HLADRB gene polymorphism and ACE gene polymorphism Interaction has a synergistic effect on longevity.