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Association Study of Polymorphisms in the GNAS1 T393C and Renal Clear Cell Carcinoma

Author: JiangHua
Tutor: ChenYiRong
School: Lanzhou University
Course: Surgery
Keywords: Renal clear cell carcinoma GNAS1 Gene polymorphism
CLC: R737.11
Type: Master's thesis
Year: 2007
Downloads: 33
Quote: 0
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Objective: To study GNAS1 ( Guanine was the nucleotide -binding protein , alpha -stimulating activity polypeptide 1 ) gene T393C polymorphism and renal clear cell carcinoma of the relationship investigate the GNAS1 gene T393 polymorphism is a risk factor for the occurrence of renal cell carcinoma . Method : collect the Lanzhou Military Region General Hospital 42 cases of surgical resection specimens of renal cell carcinoma , and 33 cases of Gansu Provincial People's Hospital outpatient health checkup by whole blood specimens. By PCR- restriction fragment length polymorphism , renal cell carcinoma patients and health checkup by a comparative study of the gene polymorphism . Results: In the present study , GNAS1 gene T393C polymorphism distribution were : TT 25 cases ( 33.3% ) , the TC 38 cases (50.7%), CC in 12 cases (16.0%) , allele frequency : T allele 88 (58.7 % ) ; C allele 62 ( 41.3% ) . Study sample genotype and allele frequencies consistent with Hardy - Weinberg equilibrium ( Hardy -Weinberg equilibrium ) . T393C polymorphism in the study sample ( 1 ) in the homozygous TT genotype compared with TC / CC genotype , TT genotype cases group, 18 patients (42.9%) was significantly higher in seven cases (21.2 %) statistically significant ( P <0.05 ) , and the difference between the two ; ( 2 ) homozygous CC genotype compared with TC / TT genotype , the CC genotype case group and the control group no significant differences , and the difference between the two was not statistically significant (P> 0.05); (3) in GNAS1 gene T393C polymorphism in comparison with the pathological grade and clinical stage , no significant difference ( P > 0.05 ) . Conclusion : the GNAS1 gene T393C polymorphism and renal cell carcinoma with correlation TT genotype relative to the TC and CC genotypes might Chinese people are the risk factors of renal cell carcinoma . The GNAS1 gene T393C polymorphism might be a good indicator to determine the biological behavior of renal cell carcinoma .

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