一个家系中糖尿病患者的血清酪氨酸激酶差异性表达
发布时间：2018-07-26 10:56
【摘要】：[目的]对一个汉族2型糖尿病家系的临床特征和遗传强度进行评价。并应用人类抗体芯片(Antibody Microarray)技术筛选家系人群的相关目标因子,获得一种或几种差异表达的酪氨酸激酶,探讨家族聚集性糖尿病的分子机制。[方法]对先证者及家系中糖尿病患者的临床特征进行分析,通过计算家系先证者同胞中糖尿病患病危险性(λs值),评价该家系的遗传强度。从15名家系成员中,挑选出3名入选者进行磷酸化抗体芯片检测。其中,先证者及其子代糖尿病患者作为研究对象,家系中血糖正常者及同地区无亲缘关系正常者各1人作为对照,运用标记有71种目标因子RayBiotech AAH-PRTK-1-4,检测家系中2型糖尿病患者血清酪氨酸激酶差异性表达。[结果]1.该家系共4代,直系亲属15人,确诊糖尿病病例7例,男3例、女4例,其临床特征表现为：①发病年龄30-55岁,均无明显“三多一少”症状,无自发酮症倾向；②除Ⅱ-1、Ⅲ-1外,另外5名糖尿病患者BMI均24kg/m2；③除Ⅲ-1外,男性患者腰围均90cm、女性患者腰围均80cm；男性患者腰臀比均0.9、女性患者腰臀比均0.85；④除新发现的Ⅱ-6未进行糖尿病治疗外,Ⅱ-1、Ⅲ-1开始启用胰岛素治疗,余4名患者口服降糖药物治疗。2.该家系人群结构较全面,亲属为糖尿病高危人群,遗传强度λs=8.59,具有很强的家族聚集性,适合作为进一步研究遗传因素的目标人群。3.先证者及其子代糖尿病患者(Ⅱ-1、Ⅲ-1)相关生化指标显示：总胆固醇、低密度脂蛋白、甘油三酯均高于正常,高密度脂蛋白均低于正常,提示存在血脂代谢异常。4.应用RayBiotech AAH-PRTK-1-4对家系中2型糖尿病患者、家系中血糖正常者及同地区无亲缘关系正常者的血清样本进行检测,观察到6个差异表达的酪氨酸激酶,包括FGFR2(a isoform)、NGFR、 ROR1、 ROR2、TNK1 和VEGF R2在家系中2型糖尿病患者血清中表达高于家系中血糖正常者及同地区无亲缘关系正常者1.5倍以上。[结论]1.该家系具有明显家族聚集和遗传倾向,且家系中糖尿病患者均存在中心性肥胖。2.就该家系中选取的3名研究对象而言,两名2型糖尿病患者的体重指数、腰臀比、甘油三酯、总胆固醇、低密度脂蛋白明显高于血糖正常者,高密度脂蛋白低于血糖正常者。3.高通量RayBiotech AAH-PRTK-1-4检测显示,家系中2型糖尿病患者、家系中血糖正常者及同地区无亲缘关系正常者血清存在酪氨酸激酶磷酸化水平差异。其中,表达明显高于家系中血糖正常者及同地区无亲缘关系正常者的有6个酪氨酸激酶,即FGFR2 (a isoform)、NGFR、ROR1、ROR2、 VEGFR2、TNK1,它们可能参与家族性糖尿病的发病过程。
[Abstract]:Objective] to evaluate the clinical characteristics and genetic strength of a Han Chinese family with type 2 diabetes mellitus. Human antibody chip (Antibody Microarray) technique was used to screen the relative target factors of family population to obtain one or several differentially expressed tyrosine kinases and to explore the molecular mechanism of familial aggregation diabetes. [methods] the clinical characteristics of the patients with diabetes mellitus in the proband and the families were analyzed, and the genetic strength of the families was evaluated by calculating the risk of diabetes (位 s) among the proband sibling of the families. Three of the 15 family members were selected for phosphorylation antibody chip test. Among them, the patients with diabetes mellitus of proband and their offspring were used as the research objects, and the subjects with normal blood glucose in their families and those with no related relationship in the same region were used as control. RayBiotech AAH-PRTK-1-4 was used to detect the differential expression of serum tyrosine kinase in patients with type 2 diabetes mellitus. [result] 1. There were 15 direct relatives in this family, 7 cases of diabetes mellitus were diagnosed, 3 cases of male and 4 cases of female. The clinical features of this family were 30 to 55 years old, with no obvious symptoms of "three more than one less" and no tendency of spontaneous ketosis. (2) except 鈪，
本文编号：2145786
[Abstract]:Objective] to evaluate the clinical characteristics and genetic strength of a Han Chinese family with type 2 diabetes mellitus. Human antibody chip (Antibody Microarray) technique was used to screen the relative target factors of family population to obtain one or several differentially expressed tyrosine kinases and to explore the molecular mechanism of familial aggregation diabetes. [methods] the clinical characteristics of the patients with diabetes mellitus in the proband and the families were analyzed, and the genetic strength of the families was evaluated by calculating the risk of diabetes (位 s) among the proband sibling of the families. Three of the 15 family members were selected for phosphorylation antibody chip test. Among them, the patients with diabetes mellitus of proband and their offspring were used as the research objects, and the subjects with normal blood glucose in their families and those with no related relationship in the same region were used as control. RayBiotech AAH-PRTK-1-4 was used to detect the differential expression of serum tyrosine kinase in patients with type 2 diabetes mellitus. [result] 1. There were 15 direct relatives in this family, 7 cases of diabetes mellitus were diagnosed, 3 cases of male and 4 cases of female. The clinical features of this family were 30 to 55 years old, with no obvious symptoms of "three more than one less" and no tendency of spontaneous ketosis. (2) except 鈪，
本文编号：2145786
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