醛糖还原酶基因5′端两种基因多态性与糖尿病视网膜病变的相关性研究  

The correlation study between the two gene polymorphism of aldose reductase gene 5' end and diabetic retinopathy

作　　者：程硕[1] 刘长山[2] 王秀军[2] 李艳[1] 孙丽萍[2] 

机构地区：[1]潍坊医学院研究生部,山东潍坊261042 [2]山东省潍坊市人民医院内分泌科,山东潍坊261041

出　　处：《中国当代医药》2013年第4期13-15,共3页China Modern Medicine

基　　金：山东省医药卫生科技发展计划(保健项目)(200921)

摘　　要：目的研究醛糖还原酶(AR)基因5′端(AC)n二核苷酸串联重复序列及启动子区C(-106)T多态性与山东地区糖尿病视网膜病变(DR)患者易感性之间的关系。方法应用多聚酶链反应(PCR)琼脂糖凝胶电泳技术和DNA测序技术检测322例糖尿病(DM)患者及98名对照者(CON)的基因型。结果 (1)DR患者Z-2等位基因、含Z-2等位基因但不含Z+2等位基因的基因型、C等位基因及CC基因型频率显著高于无视网膜病变(NDR)患者,Z+2等位基因频率显著低于NDR者。(2)Z-2/C单倍型分布频率在DR组显著高于NDR组。结论山东地区DM患者AR基因5′端(AC)n多态标记Z-2等位基因及C(-106)T多态标记C等位基因可能与糖尿病视网膜病变易感性相关,Z+2等位基因可能是DR保护性因素。Objective To study the relationship between polymorphism of the （AC） n dinucleotide tandem repeat se- quence and promoter region of C （-106） T of aldose rednctase （AR） 5＂ end and the susceptibility of patients with dia- betic retinopathy （DR） in Shandong area. Methods The genotypes of 322 patients with diabetes mellitus （DM） and 98 participants selected as control group were detected by poly merase chain reaction （PCR） agarose gel electrophoresis and DNA sequencing. Results Z-2 allele, Z-2 allele but excluding Z＋2 allele, C allele and CC allele frequencies in DR patients were remarkably higher than those of non-diabetic retinopathy （NDR） patients. Z＋2 allele frequency was lower than that of NDR participants. The haplotype Z-2/C frequency in DR group was superior to that of NDR group. Conclusion The polymorphic markers of （AC） n Z-2 allele and C （-106） T allele in AR gene 5＇ end in DM patients in Shandong area may he associated with the susceptibility of DR. The Z＋2 allele may be the protective factor of DR.

关 键 词：糖尿病 醛糖还原酶 糖尿病视网膜病变 多态现象 

分 类 号：R394[医药卫生—医学遗传学]