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Study On The Correlationgship Of PTEN Gene And Laryngeal Carcinoma

Posted on:2010-08-10Degree:MasterType:Thesis
Country:ChinaCandidate:Y DiFull Text:PDF
GTID:2144360272996036Subject:Medical Genetics
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Laryngeal carcinoma is a common malignant neoplasm in head and neck cancer, accounting for 5.7%-7.6% of human cancer. In recent years, there is an increasing tendency in laryngeal carcinoma's morbidity and mortality in most regions of the world with the alter of the environmental factors such as smoking and drinking,and LSCC seriously hampers people's health and life. The nosogenesis of Laryngeal carcinoma is a serious of complicate process of gene changed, genetic factors, environmental factors and immune factors have all been tested playing relevant roles in this process. So it is important to study carcinogenesis and reveal etiopathogenesis of laryngeal carcinoma.PTEN gene is a tumor suppressor gene which was found in 1997 and named, it is located in 10q23.3, and has been cloned. PTEN was found as the first tumor suppressor gene with a phosphatase activity. It cause many scholars'attention since it was discovered. Lots of different types of tumor tissue, transplanted tumor and tumor cell lines were found to have PTEN mutations.Microsatellites are widely distributed in the DNA repeat sequences of biology genome, and has a close linkagewith many important genes. The Microsatellite DNA sequence is short, anda it has a huge number, types and it is more widely distributed, very suitable for sensitive PCR amplification,it is also has a high polymorphism, high genetic stability, and it is a ideal DNA markers for genetic diseases in susceptibility gene mapping.Single nucleotide polymorphisms (single nucleofide polymorphism, SNP) is a kind of DNA polymorphism.SNP has an important value in the progress of applied research in many aspects such as molecular diagnostics, clinical testing, forensics, pathogen detection, genetic diseases, drug research and so on.The aim of the reserch is to explore the correlationship of PTENGene and laryngeal carcinoma by detecting the MSI , LOH and SNP on 10q23, thus we can judge the effect of PTEN in the prosess of laryngeal carcinoma. We selected 3 microsatllite polymorphism markers RH51280 , PMC20246P1 and SHGC103880,they are all located on PTEN gene, to detect loss of heterozygosity(LOH) and microsatellite instability(MSI) with PCR-SSCP-DNA silver staining method in 38 cases of laryngeal carcinoma and explored their correlation with clinicopathological features. Meanwhile,use the 2 SNPs(rs2735343,rs701848) as genetic marker, To study the association of single nucleotide polymorphisms (SNP) of the phosphatase and tensin homologue (PTEN) gene among the cases of North-China Han population with laryngeal carcinoma with PCR-RFLP method.DO the Genotyping and gene frequency analysis in all the subjects, compare the difference between the the contrast group and carcinoma of larynx group.and to revealing mechanism of laryngeal carcinoma. From the two aspects of the reserch above,we can provide the new theory evidence for the mechanism and prevention and cure of laryngeal carcinoma,and establish the importent basis for the diagnose cure and prevention on the gene level.Among the 3 microsatllite polymorphism markers in 38 cases of laryngeal carcinoma ,in addition to 16 cases and 13 cases did not occur LOH or MSI, 22 cases had occurred LOH at least on a locus, the total incidence of LOH was 57.89%; 25 cases had occurred MSI at least on a locus, the total incidence of MSI was 65.79%; 3 laryngeal carcinoma patients occurred LOH at 3 locus simultaneously, no patient occurred MSI at 3 locus simultaneously, On three loci, the LOH frequencies were 18.42%, 20.51% and 31.58% respectively; The MSI frequencies were 10.53%, 50.00%, and 15.79% respectively. The relationship between clinical Pathology feature and statistics analyses of each marker indicated that, there is statistical significance for LOH and MSI occured on SHGC103880 in histological grad(P<0.05) , patients of SCâ…¢were a higher frequency of LOH and MSI on SHGC103880.LOH on PMC20246P1 was related to whether lymphatic metastas or not ,it was more frequently found in lymphatic metastas patient(P<0.05),and the patients whose age was above 60 are easy to have MSI occurred. LOH MSI on RH51280 were unrelated to the clinical data including age, gender, clinical stage, pathological grade, lymphatic metastas and prognosis(P<0.05).Meanwhile,there is no statistically significance between SNP(rs2735343,rs701848)polymorphism in PTEN gene in the contrast group with carcinoma of larynx group(P>0.05), these 2 SNPs maybe aren't involved in the genesis of laryngeal carcinoma.
Keywords/Search Tags:PTEN, laryngeal carcinoma, microsatellite instability, loss of heterozygosity, single nucleotide polymorphism gene
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