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大多功能蛋白酶2基因与1型糖尿病易感性及发病年龄的关系

丁鹤林 程桦 傅祖植 邓庆丽 严励

  【摘要】 目的 研究大多功能蛋白酶(LMP)2基因与1型糖尿病(1-DM)及其发病年龄的关系。方法 71例1-DM患者及86名健康人参加,根据发病年龄将1-DM患者分为3组(≤14岁组,15~30岁组,≥31岁组);采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术进行LMP2基因分型。结果 LMP2-R/R、LMP2-R/H、LMP2-H/H、LMP2-R及LMP2-H频率在1-DM组分别为40.9%、53.5%、5.6%、67.6%、32.4%,在正常对照组分别为57.0%、32.6%、10.4%、73.3%、26.7%。LMP2-R/H频率在1-DM组显著高于对照组(P<0.01),而LMP2-R/R频率则显著低于对照组(P<0.05);LMP2各基因型及等位基因频率在1-DM各发病年龄组之间无显著性差异(P>0.05)。结论 LMP2-R/H可能为1-DM的易感基因型,LMP2-R/H阳性者患1-DM的危险性增加;LMP2-R/R可能是1-DM的保护基因型,LMP2-R/R阳性者患1-DM的危险性降低;LMP2各个基因型及等位基因与1-DM的发病年龄无关。
  【关键词】 糖尿病,1型  基因  聚合酶链反应  限制性片段长度多态性

Relationship between LMP2 gene and susceptibility to type-1 diabetes mellitus and age of diabetic onset

DING Helin,CHENG Hua,FU Zuzhi,et al.
Department of Endocrinology,Sun Yat-sen Memorial Hospital,Sun Yat-sen University of Medical Sciences,Guangzhou,510120

  【Abstract】 Objective To investigate the relationship between LMP2 gene and susceptibility to type-1 diabetes mellitus and age of diabetic onset. Methods The LMP2 gene genotypes were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 71 type-1 diabetic (1-DM) patients and 86 healthy persons (as controls). 1-DM patients were divided into 3 groups according to age of diabetic onset, group A≤14 years, group B 15~30 years, group C≥31 years. Results The frequencies of LMP2-R/R, LMP2-R/H, LMP2-H/H, LMP2-R and LMP2-H were  40.9%, 53.5%, 5.6%, 67.6% and 32.4% respectively in 1-DM patients, and 57.0%, 32.6%, 10.4%, 73.3% and 26.7% respectively in controls; Compared with controls, the frequency of LMP2-R/H increased significantly (P<0.01) while the frequency of LMP2-R/R decreased significantly (P<0.05) in the 1-DM patients. The frequencies of LMP2 genes had no significant difference between age groups of diabetic onset. Conclusions There may be significant association of LMP2-R/H and LMP2-R/R with the susceptibility to 1-DM. The persons with LMP

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