In-silico analysis of single nucleotide polymorphisms (SNPs) in human ALK gene

Backgrounds: The Anaplastic Lymphoma Kinase (ALK) oncogene is a receptor tyrosine kinaseknown to be oncogenically activated either by point mutations or by chromosomal translocationsfound in some cancers like Neuroblastoma, non-small cell lung cancer, and anaplastic large celllymphoma. ALK receptor tyrosine kinase, which is part of a family of proteins called receptortyrosine kinases (RTKs), RTK transmits signals from the cell surface into the cell through aprocess called signal transduction. Some mutations and abnormalities in ALK may lead toNeuroblastoma (this cancer kills children under five years old). In this study, we checked somesingle nucleotide polymorphisms (SNP) that were identified as missense changes in the NationalCenter for Biotechnology Information (NCBI) on the SNP database. These changes may increasethe growth of cancer cellsMaterials and Methods: The information was extracted from NCBI/SNP database anddiscovered ۳۲۱۸۶۲ SNPs in various parts of ALK. The results are then narrowed down to ۲۳۳۸missense SNPs using filters. These SNPs include ۱۵ pathogenic SNPs. Then the result waschecked for finding the SNP which makes the abnormal protein.Results: The result of this study with bioinformatics tools (e.g. SIFT, POLYPHEN-۲, PHDSNP,GO, and PROVEAN) shows that five types of these SNPs like rs۱۱۳۹۹۴۰۸۷ (R>L) canproduce an abnormal protein and cause cancer cells to grow and spread.Conclusion: According to this result, we predict with a high probability that these SNPs aredamaging and pathogenic.

کلیدواژه ها:

ALK ، SNP ، Neuroblastoma ، RTK ، Cancer