细胞间黏附分子1 K469E基因多态性与糖尿病视网膜病变的关系.docVIP

细胞间黏附分子1 K469E基因多态性与糖尿病视网膜病变的关系 作者：朱捷， 高适华， 池细俤， 张友胜， 赖小铮， 钟文亮 【摘要】 　　目的 探讨细胞间黏附分子1（ICAM1）469K/E基因多态性与糖尿病视网膜病变（DR）的关系。 方法 收集2型糖尿病无DR患者40例、2型糖尿病DR患者40例和对照者30例抗凝血。分离白细胞，以DNAzol抽提白细胞总DNA。分别采用基于BStUI酶切位点的PCR限制性长度多态性（PCRRFLP）及等位基因序列特异性引物PCR法检测469K/E基因多态性。等位基因和基因型频率比较采用χ2检验。 结果 PCRRFLP及等位基因序列特异性引物PCR法检测469K/E基因多态性获得的结果完全吻合。2型糖尿病DR患者ICAM1 469 KE及EE基因型出现的频率显著高于2型糖尿病无DR患者及对照组(P0.01)，2型糖尿病DR患者等位基因E出现的频率明显高于无DR患者及对照组(P0.01)。 结论 ICAM1 469E等位基因与2型糖尿病视网膜病变有关。 【关键词】 胞间黏附分子1； 糖尿病视网膜病变； 多态性，限制性片段长度； 聚合酶链反应 　　ABSTRACT: Objective To investigate the relationship between diabetic retinopathy and K469E gene polymorphism of intracellular adhesion molecule1(ICAM1). Methods 40 cases of type 2 diabetes mellitus patients with and without retinopathy, 30 cases of normal controls were enrolled. Anticoagulated blood was collected, and genome DNA was extracted from isolated white blood cells by DNAzol reagents. The K469E gene polymorphism of ICAM1 was detected by BStUI restriction sitebased polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP) and allele sequencespecific primer PCR. Allele and genotype frequencies were analyzed by the χ2 test. Results Results from PCRRFLP and allele sequencespecific primer PCR assay were consistent with each other. ICAM1 469 KE and EE genotypes were significantly higher in type 2 diabetes mellitus patients with retinopathy than those without retinopathy and the control group (P0.01), the frequency of alleles E in type 2 diabetes mellitus patients with retinopathy was apparent higher than that in patients without retinopathy and the control group (P0.01). Conclusion K469E gene polymorphism of ICAM1 is related with the diabetic retinopathy. 　　KEY WORDS: intercellular adhesion molecule1; diabetic retinopathy; polymorphism, restriction fragment length; polymerase chain reaction 　　糖尿病视网膜病变（diabetes retinopathy，DR）是糖尿病最为常见和严重的微血管并发症之一，是糖尿病致盲的主要原因。已知糖尿病患者血管内皮细胞受损与DR发生紧密相关。大量研究表明，黏附分子介导的白细胞与内皮细胞的相互作用在内皮损伤的发生中占重要地位。作为黏附分子中重要成员，细