DC Field | Value | Language |
dc.contributor.author | Farcas, Marius Florin | - |
dc.date.accessioned | 2022-02-11T09:19:22Z | - |
dc.date.available | 2022-02-11T09:19:22Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | FARCAS, Marius Florin. Distribution of the CCR5 ∆32 mutation in population groups in Romania. In: MedEspera: the 4th Internat. Medical Congress for Students and Young Doctors: abstract book. Chișinău: S. n., 2012, pp. 37-38. | en_US |
dc.identifier.uri | http://repository.usmf.md/handle/20.500.12710/20095 | - |
dc.description.abstract | Introduction: The CCR5 gene encodes a chemokine receptor used by HIV-1 to gain entry into CD4+
T cells. The CCR5 ∆32 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 ∆32 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 A32 allele, while in the Roma ethnic
group 111 subjects were wild-type homozygous and 22 heterozygous. The observed allele frequencies for
the ∆32 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 ∆32 mutation. At the present moment there is not a single clear explanation to
why such a high frequency of the CCR5 ∆32 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. | en_US |
dc.language.iso | en | en_US |
dc.publisher | State Medical and Pharmaceutical University Nicolae Testemitanu, Medical Students and Residents Association, Scientific Association of Students and Young Doctors | en_US |
dc.relation.ispartof | MedEspera: The 4th International Medical Congress for Students and Young Doctors, May 17-19, 2012, Chisinau, Republic of Moldova | en_US |
dc.subject | heterozygous subjects | en_US |
dc.subject | chemokine receptor | en_US |
dc.title | Distribution of the CCR5 ∆32 mutation in population groups in Romania | en_US |
dc.type | Other | en_US |
Appears in Collections: | MedEspera 2012
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