title: The Frequency of CCR5del32 Mutation in Populations of Russians, Tatars and Bashkirs of Chelyabinsk Region, Russia.
abstract: The distribution of genetic variants associated with natural resistance to viral infections can vary among human ethnic groups due to evolutionary factors, defining the different epidemiologic background of world populations. The polymorphisms, defining the natural resistance to HIV-infection and the rate of progression up to AIDS, are very important since epidemic is still on rise. We have studied the distribution of allele and genotype frequencies of CCR5delta32 mutation in major populations inhabiting Chelyabinsk region of the Russian Federation. Genetic survey included the population of 509 potential blood marrow donors: Russians (N = 300), Bashkirs (N = 118) and Tatars (N = 91). The genotyping assay was performed using real-time polymerase chain reaction (real-time PCR). The genotypes were defined by melting curve analysis. The CCR5delta32 allele and CCR5delta32/delta32 genotype are presented in population of Russians in Chelyabinsk region with the frequencies of Fx= 10.83% and Px= 1.67, for the CCR5delta32 allele and its homozygosity, respectively. In populations of Bashkirs and Tatars CCR5delta32 allele and CCR5delta32/delta32 genotype are presented at lower frequencies of Fx= 6.36%/Px= 0.85 and Fx= 7.14%/Px= 1.10, respectively. These data are consistent with the theory of northern origin of the CCR5delta32 mutation.
authors.affiliation: FSBEI HE "Chelyabinsk State University", Chelyabinsk, Russia.|SBHI "Chelyabinsk Regional Hemotransfusion Station", Chelyabinsk, Russia.
authors.forename: Irina
authors.initials: I
authors.lastname: Govorovskaya
authors.affiliation: FSBEI HE "Chelyabinsk State University", Chelyabinsk, Russia.
authors.forename: Elena
authors.initials: E
authors.lastname: Khromova
authors.affiliation: FSBEI HE "Chelyabinsk State University", Chelyabinsk, Russia. tatiana.suslova.hla@gmail.com.|SBHI "Chelyabinsk Regional Hemotransfusion Station", Chelyabinsk, Russia. tatiana.suslova.hla@gmail.com.
authors.forename: Tatiana
authors.identifier: http://orcid.org/0000-0002-7028-6839
authors.initials: T
authors.lastname: Suslova
authors.affiliation: FSBI "NRC Institute of Immunology" FMBA of Russia, Moscow, Russia.
authors.forename: Leonid
authors.initials: L
authors.lastname: Alexeev
authors.affiliation: FSBI "NRC Institute of Immunology" FMBA of Russia, Moscow, Russia.
authors.forename: Ilya
authors.initials: I
authors.lastname: Kofiadi
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001853:Bone Marrow / Q000378:metabolism; D060467:Disease Resistance / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D015658:HIV Infections / Q000208:ethnology / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D060888:Real-Time Polymerase Chain Reaction; D019713:Receptors, CCR5 / Q000235:genetics*; D012042:Registries; D012426:Russia; D017422:Sequence Analysis, DNA
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5
keywords: CCR5; HIV; Polymorphism; Stem cell donor registry