摘要
目的探讨不同T2DM家系肾虚证遗传基础的差异性。方法筛选两个2型糖尿病(type 2 Diabetes Mellitus,T2DM)核心家系,对家系中先证者的一级亲属进行辨证和理化检测,选择两个家系一级亲属中的糖尿病肾虚证患者各3例为病例组,家系中的正常人为对照组,作基因芯片实验;采用SAM芯片数据分析软件筛选两个家系的显著表达基因,并利用FatiGO数据库对筛选到的2组显著表达基因的功能和涉及的疾病作比较。结果两个家系一级亲属中的T2DM患者均为肾虚证,T2DM肾虚证患者分别占先证者及其一级亲属的50.0%和57.1%;通过SAM软件分别筛选到两个家系T2DM肾虚证相关的473和529个显著表达基因,基因功能注释比较结果提示免疫反应和糖代谢类生物学过程存在差异;在筛选到的显著表达基因中,家系2中与糖尿病肾病和糖尿病酮症酸中毒相关的基因各有1条,而家系1中与此两个糖尿病并发症相关的基因为0条。结论 T2DM家系中肾虚证和T2DM有伴发倾向;两个T2DM家系肾虚证的生物学差异主要集中在免疫反应及糖代谢方面,不同的家系对T2DM并发症的易感性不同。
Objective To compare the differences of genetic background of kidney deficiency pattern in the first degree relatives between two T2DM nuclear families. MethodsThe first degree relatives of two T2DM pedigrees were closed to make routine physical ＆ chemical tests.3 typical T2DM patients with kidney deficiency and 1 healthy member were selected as experiment group and control group for each pedigree respectively.The RNA of each group was extracted to do cDNA microarray test.The significantly expressed genes were first screened through SAM,and then functionally annotated using FatiGO compare database. ResultsT2DM members in the first degree relatives of 2 pedigrees were all diagnosed with kidney deficiency pattern,which took up 50% and 57.1% of the total investigated members in each pedigree respectively.473 and 529 significantly expressed genes were screened fore each pedigree respectively.Functional annotation compare results of these genes showed that immune and metabolism function related genes showed significantly difference.In significantly expressed genes of pedigree 2,there is each 1 gene related to Diabetic nephropathy and Diabetic ketoacidosis,while in those of pedigree 1,no one was found to associate with these two diabetic complications. ConclusionKidney deficiency pattern usually occurs together with T2DM in T2DM pedigree.The differences of genetic background between two T2DM nuclear pedigrees mainly concentrate in immune response and carbohydrate metabolism process.The different T2DM pedigrees show a different susceptibility to diabetic complication.
出处
《时珍国医国药》
CAS
CSCD
北大核心
2013年第5期1115-1117,共3页
Lishizhen Medicine and Materia Medica Research
基金
陕西省自然科学基础研究计划资助项目(No.2011JM4024)
关键词
2型糖尿病
肾虚证
核心家系
基因表达谱
Type 2 Diabetes Mellitus
Kidney deficiency
Nuclear pedigree
Gene expression profile
