RESUMEN
A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3'A), being prevalent in all ethnic groups, except in Africans. This mutation is associated with the onset of AIDS progression. Our aim was to identify the frequency of this allele in different groups from Brazil: Tiriyó and Waiampi Amerindian tribes (Asian ancestry); selected blood donors from Joinville (German descendents); and from Salvador (predominance of African and Portuguese mixture). SDF1-3'A was screened by PCR/RFLP with MspI enzyme. Our results showed a high allelic frequency in Tiriyó tribe (0.24) and Joinville population (0.21), and a frequency of 0.17 and 0.05 in the Salvador population and in the Waiampi tribe, respectively. There was no statistical difference among the allelic frequencies in the studied ethnic groups, except in the Waiampi. Due to the great genetic diversity among Brazilian population and the lack of studies on SDF1-3'A allele, our study of this allelic frequency in these different Brazilian ethnic groups could be important to identification of biomarker for therapeutic support in progression to AIDS and a molecular marker for analysis of evolutionary relationships among human populations.
Asunto(s)
Humanos , /genética , Infecciones por VIH/genética , Mutación/genética , Polimorfismo Genético/genética , Población Negra/genética , Pueblo Asiatico/genética , Brasil/etnología , Progresión de la Enfermedad , Población Blanca/genética , Frecuencia de los Genes , Marcadores Genéticos , Genotipo , Infecciones por VIH/etnología , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de RestricciónRESUMEN
Whole blood samples were collected from 316 Uigur subjects inhabiting Kashi City, Sinkiang Uigur Autonomous Region, and their genomic DNA was extracted using QIAgen Blood Kit. DNA fragment spanning CCR5?32 and CCR5m303 mutation points were amplified by PCR and genotyped by directed electrophoresis and RFLP with HinCII respectively. In all 316 samples only 22 heterozygotes of CCR5?32 were found, in accordance with Hardy Weinberg equilirium. No CCR5m303 mutation was found. No difference existed between male and female individuals. The frequency of CCR5?32 in Uigur population is 3.48%, similar to Medi Asia ethnic groups (higher than that of Chinese Han people and lower than that of Caucasian people), i.e, in continuity regarding district distribution. Due to its slow down effect on clinical course of AIDS , high frequency of CCR5?32 is highly significant in prevention and treatment of AIDS in Uigur population.
RESUMEN
It was reported that 249I 280M haplotype of HIV coreceptor CX 3 CR1 was associated with accelerated AIDS progression. In this study, genomic DNA of 119 Uigur subjects (98 normal, 21 HIV 1 infected) was purified from PBMC, and 249I and 280M allelic frequencies were identified by PCR RFLP. All data were tested by ? 2 analysis.It was found that allelic frequency of 249I and 280M was 15 8% and 13 8%, respectively, and there was no difference between normal and HIV infected groups. Both population and sex distribution were in accordance with Hardy Weinberg equilibrium. Frequency of 249I280M haplotype was 13 8%, close to that of Caucasian people. No linkage was found between CX 3 CR1 and CCR5?32, but strong linkage existed between 249I and 280M ( P