Difference Of Gene Mutation Among Han And Yi Patients With High-Grade Cervical Intraepithelial Neoplasia In Yunnan Province

【Objective】High-throughput whole-genome sequencing technology was used to detect gene mutation information of cervical high-grade intraepithelial neoplasia patients of Han and Yi ethnic groups in Yunnan Province,and single nucleotide polymorphic loci,insertion deletion sites and other mutation information were screened for analysis to preliminarily explore inter-ethnic differences in the pathogenesis of cervical cancer.【Object and Method】Thirty-four patients who received cervical HPV and TCT examination in the gynecological outpatient department or inpatient department of our hospital were collected from October 2019 to December 2020.The clinical data of the patients were collected and grouped according to their ethnic group and cervical HPV and TCT examination results.Grouping:There were 6 groups: Group 1: Han HSIL patients with high-risk HPV infection(6individuals);Group 2: Yi HSIL patients with high-risk HPV infection(6 individuals);Group 3: Han patients with high-risk HPV infection(5 individuals);Group 4: Yi patients with high-risk HPV infection(6 individuals);Group 5: Han patients with normal cervical cells(6 individuals);Group 6: Yi patients with normal cervical cells(5individuals).Methods:Cervical HPV and TCT samples were collected for DNA extraction of exhumed cervical cells,and genetic detection was performed by Illumina sequencing platform.The mutation information of all patients was summarized and screened.To analyze whether there are differences in mutation information such as single nucleotide polymorphism(SNP)sites,insertion and deletion sites among Yunnan Han and Yi patients with high-grade cervical intraepithelial neoplasia.【Results】1.A total of 1043530 SNPs were genotyped in Han patients,30 SNPs were filtered for deleteriousness,and 8 of them were annotated in databases as being associated with thyroid,colorectal,gastric,small bowel and breast cancer.2.Yi nationality had a total of 779475 SNP sites,and 39 harmful SNP sites were screened out,of which 3 were annotated and recorded in the database,which are related to liver cancer,pancreatic cancer and breast cancer.3.The detection rate of harmful SNP in Han and Yi nationality was 0.0029 and 0.0050,respectivel.The detection rate of Yi nationality was higher than that in Han nationality.The difference in detection rate between the two ethnic groups was statistically significant(P<0.05).4.There were a total of 126,480 InDel loci in the Han population,and 43 harmful InDel loci were screened out,of which 9 were annotated and recorded in the database,which were related to breast cancer,lung cancer,ovarian cancer,colorectal cancer,prostate cancer and endometrial cancer.5.A total of 81,426 InDel loci were found in Yi people,and 48 harmful InDel loci were screened out,of which 9 were annotated and recorded in the database,which were related to lung cancer,colorectal cancer,breast cancer,pancreatic cancer,prostate cancer,ovarian cancer,endometrial cancer,skin cancer and liver cancer.6.The detection rates of harmful InDel in Han and Yi people were 0.0340 and 0.0589,respectively,and the detection rate of Yi nationality was higher than that in Han nationality.The difference was statistically significant(P<0.05).【Conclusion】1.Illumina high-throughput sequencing technology can be used to perform rapid,comprehensive and sensitive gene sequencing on the patients with high-grade intraepithelial neoplasia of the Han and Yi nationalities in Yunnan Province,and it is found that there are differences in the distribution of SNP and InDel sites between the two nationalities.2.Through this study,it was found that genetic mutations were common in Yunnan Han and Yi patients with high-grade cervical intraepithelial neoplasia,and the mechanism of HPV causing high-grade cervical intraepithelial neoplasia may be different between Han and Yi people.