title: 32-nucleotide deletion, associated with defence against hiv/aids, is a predominant mutation of CCR5 gene in the population of Georgia.
abstract: There is a special interest to investigate genetic peculiarities in the populations with a low HIV seroprevalence. Despite of presence of high-risk conditions for rapid spread of HIV/AIDS epidemics in Georgia, the prevalence of this infection in the country remains very low. We studied polymorphisms of CCR5 gene in Georgians. Blood samples from 190 women randomly selected from the cohort of pregnant women involved in the program of prevention of mother-to-child HIV transmission in Georgia have been investigated. Two-step PCR was used to amplify the whole CCR5 genetic sequence. Detection of mutations and polymorphisms was done by dHPLC. All samples showing specific patterns by dHPLC, were sequenced to identify the exact nature of the mutation. It was shown that CCR5-delta32 mutation is a predominant alteration of CCR5 gene among Georgians. All subjects bearing this mutation were heterozygotes. Frequency of delta32 CCR5 allele in the population of Georgia was equal to 5%. Only one case of R223Q mutation and two cases of mutations in the non-coding region of CCR5 gene were also found. Our findings differ from the existing data showing the absence of the CCR5-delta32 mutation among Georgians and provide further support to the hypothesis on a Northeastern European origin of this mutation and North to South gradient of its distribution.
authors.forename: G
authors.initials: G
authors.lastname: Kamkamidze
authors.forename: C
authors.initials: C
authors.lastname: Capoulade-Metay
authors.forename: M
authors.initials: M
authors.lastname: Butsashvili
authors.forename: Y
authors.initials: Y
authors.lastname: Dudoit
authors.forename: O
authors.initials: O
authors.lastname: Chubinishvili
authors.forename: P
authors.initials: P
authors.lastname: Debre
authors.forename: L
authors.initials: L
authors.lastname: Theodorou
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000635:transmission; D000328:Adult; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005846:Georgia (Republic) / Q000453:epidemiology; D015658:HIV Infections / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology / Q000635:transmission; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D018445:Infectious Disease Transmission, Vertical; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D019713:Receptors, CCR5 / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D019713:Receptors, CCR5