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The Association of Protein Tyrosine Phosphatase 1B Gene Polymorphism in Chinese Patients with Obesity

Author: Tao
Tutor: ZouDaJin
School: Second Military Medical University
Course: Endocrinology
Keywords: Obesity Gene Mutation Protein tyrosine kinase -1B Polymorphism
CLC: R589.2
Type: Master's thesis
Year: 2004
Downloads: 80
Quote: 0
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Abstract


Obesity is a serious danger to public health chronic disease, it is a major risk factor for heart disease, diabetes, atherosclerotic vascular disease, lipid metabolism disorders, is significantly associated with environmental and genetic. The unclear cause obesity, genetic background, protein tyrosine kinase-1B is an important mediator in the process of insulin signaling, insulin sensitivity and body fat regulatory factors. Protein tyrosine kinase-1B gene is one of the insulin resistance susceptibility genes, polymorphisms of this gene provides some basis for to clarify insulin resistance and obesity pathogenesis. Foreign studies have found that a protein tyrosine kinase 1B polymorphism is associated with type 2 diabetes, but obesity has not been reported. The first study randomly selected 305 cases of the Shanghai regional Chinese people, P387L mutation detection using PCR / Bsl I enzymatic method the the PCR / a SacII enzymatic assay 1484insG mutations, The agarose electrophoresis prompted mutations all the samples for DNA sequence analysis. Laid the foundation for further development of the study of the etiology of obesity. Research methods: 1. Extracted from peripheral blood of obese patients and healthy controls for leukocyte DNA extraction. 2 Application of PCR amplified fragments, a 3% agarose gel electrophoresis and then digested with Bsl I, 0.1% ethidium bromide / UV detection Shanghai Chinese in P387L mutation. 3 Application of PCR amplified fragments, then SacII digestion, 12% non-denaturing polyacrylamide gel electrophoresis, 0.1% ethidium bromide / UV detection Shanghai area the Chinese people 1484insG mutations situation. Mutation samples All DNA sequencing analysis. 5 Determination of the patient's body mass index, waist circumference, hip circumference, body fat content, lipid profile (blood triglycerides, blood cholesterol, HDL, LDL, ApoB), fasting plasma glucose and insulin levels. Results: simple obesity group, obese patients with type 2 diabetes group each found five cases, two cases PTP1Bleu 387 heterozygous (genotype Pro / Leu), while the control group found that PTP1Bleu387 heterozygous, Simple lt; WP = 6 gt; obesity and obese patients with type 2 diabetes group T allele frequency as 0.025,0.01. 2 of Benzofuran and Benzothiophene Biphenyls as PTP1B gene Pro387Leu (C / T) polymorphism in the CT genotype and T allele frequency in simple was significantly higher in patients with obesity, the mutation is associated with obesity, but their mutation rate is not BMI positively correlated. Obesity in the total group, BMI 27-30kg/m2 between high body fat content higher mutation rate. Are heterozygous mutations found in this study population, no case of homozygous mutations. Obesity in the total group, the wild-type Pro / Pro and Pro / Leu mutation between heterozygous carriers no significant differences in age, BMI, TC, HDL, body fat content, waist-hip ratio, fasting glucose , insulin, ApoB significant difference. Normal control group, found PTP1B1484insG 8 cases of obesity, obese patients with type 2 diabetes group found 10 cases, 16 cases; the normal group PTP1B1484insG the allele frequency is 7.6%, simple obesity and type 2 diabetes group corresponding The allele frequencies were 10%, 16%. Obese patients with type 2 diabetes group and the healthy control group, the obesity group allele frequencies revealed significant differences between the obese group, no statistically significant difference in allele frequency and the healthy control group of obese total group. Conclusion: 1 of this study show that the protein tyrosine kinase-1B gene P387L variation with China the incidence of obesity-related of Benzofuran and Benzothiophene Biphenyls as PTP1B gene P387L mutation may only be associated with simple obesity in overweight and abdominal obesity, and obesity-merger type 2 diabetes is not relevant, and therefore suggest that PTP1B gene the P387L variation may China Obesity incidence of important genetic factors. (2) The study shows that the protein tyrosine kinase-1B gene the 3'UTR 1484insG variation with the Chinese people obese type 2 diabetes associated may therefore Tips PTP1B3'UTR 1484insG variation is one of the genetic factors for type 2 diabetes in obese Chinese.

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CLC: > Medicine, health > Internal Medicine > Endocrine diseases and metabolic diseases > Metabolic diseases > Lipodystrophy
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