| Objective Detected the single nucleotide polymorphisms(SNPs)and copy number variation(CNVs)of plasma cfDNA in Han and Uygur non-small cell lung cancer patients in Xinjiang area based on the two generation sequencing technology,and discussed the differences between SNPs and CNVs among two nationalities.Methods Collected from 2016-12-01 to 2017-11-30 treatment in the First Affiliated Hospital of Shihezi University Medical College and the hospitals in Kashi area patients who according to the pathological diagnosis of non-small cell lung cancer,20 cases of Uygur and 22 cases of Han patients,collect fasting blood 10 ml and extraction serum cfDNA by QIAamp Blood Mini Kit,according to the process of exon sequencing,completed the establishment of DNA library,quality control,sequencing and other experimental steps to get SNPs and CNVs,screened the high frequency mutation gene by comparing the DNA databases of non-small cell lung cancer.Statistical analysis of test results,and the general data,and the correlation between gene mutation and clinical features.Results1.The group of 42 cases of non-small cell lung cancer patients serum samples,20 cases of Uygur,22 cases of Han,The average concentration of cfDNA in the plasma of Uygur patients was higher than that of Han,28.34ng/ml and 19.34ng/ml,and the difference was statistically significant.2.2.Detection of gene mutation in 9 cases of Uygur lung cancer patients(45%),there are 42 genes that appear 74 times SNP and 2 times CNV;17 cases of Han(77.3%),there are 51 genes that appear 87 times SNP and 4 times CNV,the detection rate of cfDNA gene mutation in plasma of Han lung cancer patients is higher than the Uygur,the difference was statistically significant(p<0.05).3.compared the mutation frequency spectrum of the two ethnic group by the detected mutation data of 9Uygur and 17 Han patients,the frequency of ABCC11 gene in Uygur patients was significantly higher than that in Han nationality,the difference was statistically significant(p<0.05).The mutation frequencies of TP53、EGFR、DNMT3A、KRAS、LRP1B、RB1and PTEN among two ethnic groups were different,but there was no statistical significance(p> 0.05).4.A total of 2 Uygur patients were found to have gene copy number variation(22.2%),4 Han patients had gene copy number variation(23.5%),and the variation rate of CNVs among two nationalities was not significantly different(p> 0.05).5.Univariate analysis showed that lymph node metastasis was a influencing factor of gene mutation(p<0.05),and there was no significant association between gene mutation and sex,age,type of cancer and smoking.Conclusion1.There were differences in plasma cfDNA concentration and gene mutation rate in the Uygur and Han NSCLC patients in Xinjiang.2.The mutation frequency of the ABCC11 gene in the Uygur NSCLC patients was higher than that of the Han patients.3.There was no significant difference in mutation frequency between TP53,EGFR,DNMT3 A,KRAS、LRP1B、RB1、PTEN and CNVs in the two ethnic groups.4.Lymph node metastasis may be an influential factor in gene mutation in patients with non-small cell lung cancer... |
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