| Author/Editor | Smerkolj, Sava | |
| Title | Vloga izbranih genov, vključenih v uravnavo celičnega razvoja, pri nastanku raka | |
| Translated title | Role of chosen genes, included in regulation of cell development, in origins of cancer | |
| Type | monografija | |
| Place | Ljubljana | |
| Publisher | Univerza v Ljubljani, Medicinska fakulteta | |
| Publication year | 2006 | |
| Volume | str. 120 | |
| Language | slo | |
| Abstract | Introduction and hypothesis. With the present research we wanted to verify our hypothesis, that single nucleotide polymorphisms, associated with cancer development, exist in the chosen genes. The genes were as follows: CD4, H2A, DDC, ERCC3, STAT6, p75/Kip2, ACHE, CHRM3, CHRNA7, IL-9, IL-6, PARC, CCR3 in SDF-1. Products of these genes take an active part in various signaling pathways inside the cell and processes, important for cellular integrity. Cancer development is highly dependent on disregulation of these processes. Patients, materials and methods. The research was performed on samples of colorectal cancer, lung cancer, head and neck cancer, brain tumours and prostate cancer. We compared tumour and non-tumour samples of the same patient and blood control samples of healthy donors. Methods of molecular genetics (conformation analysis, DHPLC, sequencing, expression analysis, allelic discrimination) allowed us to detect modified samples, to determine alterations in DNA sequence and gene expression, to determine somatic and germline alterations, to count and calculate the number of altered samples and alelles and frequency of an individual alteration. Statistical methods allowed us to calculate if an individual alteration is statistically significantly associated to a certain cancer type, regarding the number of altered alelles. Results. We found 6 previously not described alterations and 9 already known. Beside SNPs we also found a three-nucleotide deletion. Somatic and germline alterations were detected; alterations were present in coding and noncoding (promoter and intron) regions. (Abstract truncated at 2000 characters) | |
| Descriptors | COLORECTAL NEOPLASMS LUNG NEOPLASMS HEAD AND NECK NEOPLASMS BRAIN NEOPLASMS PROSTATIC NEOPLASMS POLYMORPHISM (GENETICS) GENE EXPRESSION REGULATION, NEOPLASTIC ALLELES SEQUENCE ANALYSIS, DNA POLYMERASE CHAIN REACTION CHROMATOGRAPHY, HIGH PRESSURE LIQUID BASE SEQUENCE |