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Chongqing Medicine ; (36): 1177-1179,1183, 2015.
Article in Chinese | WPRIM | ID: wpr-600439

ABSTRACT

Objective To investigate whether EGFR gene mutations are correlated with the gene expression of ERCC1 and TYMS in non-small-cell lung cancer .Methods Collected February to December 2013 of non-small cell lung cancer(NSCLC) pa-tients eligible for enrolled 97 patients ,tumor tissue specimens obtained by intraoperative cut or puncture ,Gene expression of ERCC1 and TYMS were determined by branched-DNA liquid chip ,while somatic mutations in EGFR(E18 ,E19 ,E20 ,E21) gene were detec-ted by xTAG-liquid chip;And analysis of EGFR gene mutation associated with ERCC1 ,TYMS mRNA expression .Results Totally 29 cases of EGFR mutation were detected in all 97 specimens ,with a mutation rate of 30% (29/97) ,and a relatively high detection rate was observed in female ,adenocarcinoma and non-smoking patients(P0 .05) .Conclusion In NSCLC tissues ,EGFR mutation is relevant to the expression of ERCC1 but irrelevant to the expression of TYMS .

2.
Indian J Hum Genet ; 2011 May; 17(Suppl 1): 48-53
Article in English | IMSEAR | ID: sea-138984

ABSTRACT

BACKGROUND: Genetic variations represented as single nucleotide polymorphisms (SNPs) vary across the world population. This genetic polymorphism (such as SNPs) plays an important role in pharmacogenomics. SNPs that affects cellular metabolism, by altering the enzyme activity, have an important role in therapeutic outcome. Allele frequencies in number of clinically relevant SNPs within south Indian populations are not yet known. Hence, we genotyped randomly selected unrelated south Indian subjects from different locations of south India representing the heterogeneous ethnic background of the population. MATERIALS AND METHODS: Common variants of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULT1A1 gene polymorphisms were screened from healthy unrelated south Indian volunteers. Genotypes were determined using RFLP analysis of polymerase chain reaction-amplified products and confirmed by DNA sequencing. Chi-square test was performed to test for deviation from the Hardy-Weinberg equilibrium for each locus. RESULTS: Gene allele frequency for several polymorphisms in our study differed significantly between the populations of other nations reported for several of the SNPs. These results demonstrate that the populations in different geographic regions may have widely varying genetic allele frequencies for clinically relevant SNPs. CONCLUSION: The present study reports, for the first time, the frequency distribution of MTHFD1, TYMS, SHMT1, MTR, MTRR, CBS and SULTIA1 gene polymorphisms in a south Indian population. Population-specific genetic polymorphism studies will help in practicing pharmacogenomic principles in the clinics.


Subject(s)
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Arylsulfotransferase/genetics , Cystathionine beta-Synthase/genetics , Ferredoxin-NADP Reductase/genetics , Folic Acid/genetics , Genetic Variation/genetics , Glycine Hydroxymethyltransferase/genetics , Humans , Pharmaceutical Preparations/metabolism , Polymorphism, Genetic , Population Groups , Thymidylate Synthase/genetics
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