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LMP2 and LMP7 Gene Polymorphisms in the Southeastern Anatolia Population of Turkey

Abstract The low molecular weight polypeptide 2 (LMP2) and low molecular weight polypeptide 7 (LMP7) genes are located in the class II region of the Major Histocompatability Complex (MHC) locus on chromosome 6. These genes encode peptides forming the large components of the proteosome complex which degrades short-lived cytoplasmic proteins. Analysis of the spectrum of the peptides generated, transported and presented; disease association studies and population genetic studies are important for understanding the functional effects of genetic variations in LMPgenes. In this study, LMP2and LMP7gene polymorphisms were analyzed in Southeastern Anatolia population of Turkey. A total of 110 healthy and unrelated individuals participated in this study. Polymorphism analyses were done by Polymerase Chain Reaction (PCR) – Restriction Fragment Length Polymorphism (RFLP) method and allele/genotype frequencies of LMP2and LMP7genes were determined. A deviation from the Hardy-Weinberg equilibrium (p<0.05) was found for the genotype distribution of LMP2gene polymorphism, while the LMP7genotypes found to be distributed in accordance with the Hardy-Weinberg equilibrium (p>0.05). Available allele frequency data for different populations were used to calculate genetic distances and to construct a neighbor-joining tree. Among the included populations, Nahuas (Mexico) population was found to have the lowest genetic distance from the Southeastern Anatolia-Turkey population.