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SM ISO690:2012 AUTOR, Nou. Distribution of the CCR5 δ32 mutation in population groups in Romania. In: MedEspera, Ed. 1, 17 mai 2012, Chişinău. Chişinău: "Tipografia-Sirius" SRL, 2012, pp. 37-38. ISBN 978-9975-57-030-5. |
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MedEspera 2012 | ||||||
Conferința "MedEspera" 1, Chişinău, Moldova, 17 mai 2012 | ||||||
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Pag. 37-38 | ||||||
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Introduction: The CCR5 gene encodes a chemokine receptor used by HIV-1 to gain entry into CD4+ T cells. The CCR5 Δ32 mutation is a 32 base pair deletion that confers resistance against HIV-1 by introducing a premature stop codon and thus abolishing the receptor. The allelic frequency of this mutation in European populations is on average 10%, while in Indian groups the average frequency is 1%. Methods: By means of molecular genetics techniques, respectively PCR-Simplex (Polymerase Chain Reaction-Simplex), we investigated the genotype and allelic distribution of the CCR5 Δ32 mutation in two study groups from Romania, one consisting of 166 Romanian healthy individuals and the other of 133 healthy Roma ethnics. Results: In the Romanian population group we found 144 wild-type homozygous subjects, 21 heterozygous subjects and one subject which was homozygous for the Δ32 allele, while in the Roma ethnic group 111 subjects were wild-type homozygous and 22 heterozygous. The observed allele frequencies for the Δ32 mutation in the two study groups were 7% in the Romanian population group, respectively 8.3% in the Roma ethnics. Conclusions: This is the first study performed on populations groups from Romania concerning the distribution of the CCR5 Δ32 mutation. At the present moment there is not a single clear explanation to why such a high frequency of the CCR5 Δ32 mutation is found in Roma ethnics and while genetic drift, population mixture, or a specific founder effect can explain in part this required to elucidate the matter. |
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Cuvinte-cheie heterozygous subjects, chemokine receptor |
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