| [Purpose］To evaluate the clinical characteristics and genetic strength of type 2 diabetes in a han Chinese family. To screen family related target factor by application of the human Antibody microarrays, then get one or several differently expressed tyrosine kinase, investigate the molecular mechanism of familial aggregation of diabetes.[Methods] To evaluate the genetic strength in the family by analyzing the clinical features of proband and diabetes patients from this family and calculating the diabetes risk in family propositus compatriots (λs value).Three Enshrinees selected from 15 famous department members are detected by phosphorylation antibody chip. Propositus and the first filial generation diabetes served as the research object, the persons with normal blood glucose in family and healthy persons outside this family in the same area served as a contrast, then different expression of serum tyrosine kinase in patients with type 2 diabetes in family have been detected using the RayBiotech AAH-PRTK-1-4 chips which marked 71 kinds of factor.[Results] 1. A total of 4 generations of the family, immediate relatives of 15 people, cases diagnosed DM 7 cases, including male 3 cases, female 4 cases. The clinical features: ①Onset ages 30 to 55 years old, NO one had obvious "san duo yi shao" symptoms and tendency to spontaneous ketosis;② In Ⅱ-Ⅲ generations, besides Ⅲ-1,11-1, the other 5 members’BMI> 24 kg/m2; ③ Except Ⅲ-1, waistline in male patients were greater than 90 cm, waistline in female patients were greater than 80 cm; waist-to-hip ratio in male patients were greater than 0.9, WHR in female patients were greater than 0.85; ④ Except the newly discovered Ⅱ-6 wasn’t treated as DM, Ⅲ-1, Ⅱ-1 started using insulin treatment, other four patients started the treatment of oral hypoglycemic drugs.2.The family structure in this family population is comprehensive, relatives are groups with the DM high-risk,the genetic strength about sibling recurrence-risk ratio=8.59, familial aggregation is very strong, they compatibly played as the target population for further research on genetic factors.3. The features of the biochemical indicatorof proband and their filial generation diabetes (Ⅱ-1,Ⅲ-1):Total cholesterol, low density lipoprotein, triglycerides are higher than normal, high density lipoprotein were lower than normal, it prompts blood lipid metabolic abnormalities.4.Serum samples of patients with type 2 diabetes, person with euglycemia in genealogy and healthy persons outside this family in same area were tested by RayBiotech AAH-PRTK-1-4,6 different expression of tyrosine kinase were observed, including FGFR2 (a isoform),NGFR, ROR1,ROR2, TNK1 and VEGFR2, and their expressions in patients with type 2 diabetes in genealogy were 1.5 times higher than person with euglycemia in genealogy and healthy persons outside this family in same area.[Conclusion] l.Inthis family has obvious familial aggregation and genetic predisposition,in addition, the family there were central obesity in patients with diabetes mellitus.2. For the 3 subjects selectedfrom this family, body mass index, waist-to-hip ratio, triglyceride, total cholesterol,low density lipoprotein of 2 patients with type 2 diabetes are significantly higher than euglycemia’s, high density lipoprotein is lower than normal blood sugar.3. High flux RayBiotech AAH-PRTK-1-4 detection showed that there are diferences in Tyrosine kinase phosphorylation level between patients with type 2 diabetes,person with euglycemia in genealogy and healthy persons outside this family in same area. Among them, there are six kinds of tyrosine kinase expressed significantly higher than them in person with euglycemia in genealogy and healthy persons outside this family in same area, they are FGFR2 (a isoform), NGFR, ROR1, ROR2, VEGFR2, TNK1, and they may be involved in the pathogenetic process of familial diabetes. |
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