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MLH1、MSH2基因多态性与肾癌发病风险的相关性研究 被引量:1
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作者 邢兆辉 徐洋 +3 位作者 李红松 李成镇 王英慧 牛吉瑞 《黑龙江医学》 2018年第11期1152-1154,共3页
目的研究MLH1、MSH2基因多态性与肾癌发病风险的相关性。方法采用病例对照研究,应用PCR-RFLP法对180例肾癌病人及199名健康人的外周血进行MLH1 IVS14-19A> G和MSH2 c2063 T> G多态性位点基因分型。通过非条件logistic回归分析分... 目的研究MLH1、MSH2基因多态性与肾癌发病风险的相关性。方法采用病例对照研究,应用PCR-RFLP法对180例肾癌病人及199名健康人的外周血进行MLH1 IVS14-19A> G和MSH2 c2063 T> G多态性位点基因分型。通过非条件logistic回归分析分别计算两组等位基因及基因型频率,通过年龄、性别校正后的比值比(OR)及其95%可信区间(95%CI)评估各种基因型与肾癌发病风险的相关性。结果 MLH1GG等位基因的携带者发生肾癌的风险是AA野生型纯合子的2. 42倍,MSH2突变杂合子TG和纯合子GG与野生型TT携带者相比,更易患肾癌。结论 DNA修复基因的两个多态性位点MSH2 c2063G突变等位基因及MLH1 IVS14-19G突变等位基因与肾癌的发生有关系。 展开更多
关键词 DNA错配修复 MSH2基因 MLH1基因 肾癌 单核苷酸多态性
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Prediction of hereditary nonpolyposis colorectal cancer using mRNA MSH2 quantitative and the correlation with nonmodifiable factor
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作者 Tjahjadi Robert Tedjasaputra Mochammad Hatta +7 位作者 Muh Nasrum Massi Rosdiana Natzir Agussalim Bukhari Rina Masadah Muh Lutfi Parewangi Prihantono Prihantono Rinda Nariswati Vincent Tedjasaputra 《World Journal of Gastrointestinal Pathophysiology》 2021年第6期134-146,共13页
BACKGROUND Hereditary non-polyposis colon cancer is a dominantly inherited syndrome of colorectal cancer(CRC),with heightened risk for younger population.Previous studies link its susceptibility to the DNA sequence po... BACKGROUND Hereditary non-polyposis colon cancer is a dominantly inherited syndrome of colorectal cancer(CRC),with heightened risk for younger population.Previous studies link its susceptibility to the DNA sequence polymorphism along with Amsterdam and Bethesda criteria.However,those fail in term of applicability.AIM To determine a clear cut-off of MSH2 gene expression for CRC heredity grouping factor.Further,the study also aims to examine the association of risk factors to the CRC heredity.METHODS The cross-sectional study observed 71 respondents from May 2018 to December 2019 in determining the CRC hereditary status through MSH2 mRNA expression using reverse transcription-polymerase chain reaction and the disease’s risk factors.Data were analyzed through Chi-Square,Fischer exact,t-test,Mann-Whitney,and multiple logistics.RESULTS There are significant differences of MSH2 within CRC group among tissue and blood;yet,negative for significance between groups.Through the blood gene expression fifth percentile,the hereditary CRC cut-off is 11059 fc,dividing the 40 CRC respondents to 32.5%with hereditary CRC.Significant risk factors include age,family history,and staging.Nonetheless,after multivariate control,age is just a confounder.Further,the study develops a probability equation with area under the curve 82.2%.CONCLUSION Numerous factors have significant relations to heredity of CRC patients.However,true important factors are staging and family history,while age and others are confounders.The study also established a definite cut-off point for heredity CRC based on mRNA MSH2 expression,11059 fc.These findings shall act as concrete foundations on further risk factors and/or genetical CRC future studies. 展开更多
关键词 Colorectal cancer MSH2 gene Non-modifiable factors Risk probability
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