Report on the D32 CCR5 variant in the Sudanese Shagia tribe

Agnieszka Kempińska-Podhorodecka; Oktawian Knap; Miłosz Parczewski; Agnieszka Bińczak-Kuleta; Mirosław Parafiniuk

doi:10.2478/v10044-008-0007-3

Authors

Agnieszka Kempińska-Podhorodecka Samodzielna Pracownia Biologii Medycznej Katedry Diagnostyki Laboratoryjnej i Medycyny Molekularnej, Pomorska Akademia Medyczna, Szczecin, Poland
Oktawian Knap Zakład Medycyny Sądowej, Pomorska Akademia Medyczna, Szczecin, Poland
Miłosz Parczewski Katedra i Klinika Chorób Zakaźnych i Hepatologii, Pomorska Akademia Medyczna, Szczecin, Poland
Agnieszka Bińczak-Kuleta Katedra Diagnostyki Laboratoryjnej i Medycyny Molekularnej, Pomorska Akademia Medyczna, Szczecin, Poland
Mirosław Parafiniuk Zakład Medycyny Sądowej, Pomorska Akademia Medyczna, Szczecin, Poland

DOI:

https://doi.org/10.2478/v10044-008-0007-3

Keywords:

HIV, mutation, Sudan

Abstract

The focus on small isolated populations provides important insights into the factors affecting the distribution of inheritable traits. Here, we present a report on the distribution of the CCR5 Δ32 mutation in the so far unstudied innate Sudanese population of Shagia people. The genetic material (buccal swabs) was collected from 125 individuals living in three African villages, Abu Haraz, Shibabit and El Higiena. The DNA was extracted, the polymorphic site PCR-amplified with a pair of specific primers flanking the Δ32 CCR5 mutation and reaction products electrophoretically separated in agarose gel. In the Abu Haraz and Shibabit villages, all investigated individuals were found to be homozygous for the wildtype of the receptor, while in El Higiena village one wt/D32 homozygote was identified with the remaining individuals homozygous for non-mutated CCR5. The frequency for the Δ32 CCR5 allele was 0,4%, with Δ32/wt genotype frequency of 0,8%. This is the first report on the presence of the Δ32 CCR5 allele not only in the genetically isolated Shagia tribe but also in the region of the Sudan.

Downloads

Download data is not yet available.

References

Apostolakis S., S. Baritaki, E. Krambovitis, D. A. Spandidos, 2005, Distribution of HIV/AIDS protective SDF1, CCR5 and CCR2 gene variants within Cretan population, J. Clin. Virol., 34, 310-314
View in Google Scholar

Cohen J., 1996, AIDS Research: Likely HIV Cofactor Found, Science, 272, 809
View in Google Scholar

Degerli N., E. Yilmaz, F. Bardakci, 2005, The delta32 allele distribution of the CCR5 gene and its relationship with certain cancers in a Turkish population, Clin. Biochem., 38, 248-252
View in Google Scholar

Fauci A. S., 1996, Resistance to HIV-1 infection: It's in the genes, Nat. Med., 2, 966-967
View in Google Scholar

Galvani A. P., J. Novembre, 2005, The evolutionary history of the CCR5-D32 HIV-resistance mutation, Microbes, Infect., 7, 302-309
View in Google Scholar

Glass W. G., D. H. McDermott, J. K. Lim, S. Lekhong, S. F. Yu, W. A. Frank, J. Pape, R. C. Cheshier, P. M. Murphy, 2006, CCR5 deficiency increases risk of symptomatic West Nile virus infection, J. Exp. Med., 23, 35-40
View in Google Scholar

Kantor R., J. M. Gershoni, 1999, Distribution of the CCR5 gene 32-base pair deletion in Israeli ethnic groups, J. Acquir. Immune Defic. Syndr. Hum. Retrovirol., 20, 81-84
View in Google Scholar

Karam W., R. Jurjus, N. Khoury, H. Khansa, C. Assad, P. Zalloua, A. Jurjus, 2004, Frequency of the CCR5-delta 32 chemokine receptor gene mutation in the Lebanese population, East Mediterr. Health J., 10, 671-675
View in Google Scholar

Kostrikis L. G., A. U. Neumann, B. Thomson, B. T. Korber, P. Mchardy, et al., 1999, A polymorphism in the regulatory region of the CC-Chemokine receptor 5 gene influences perinatal transmission of Human Immunodeficiency Virus Type 1 to African-American infants, J. Vir., 73, 10264-10271
View in Google Scholar

Lu Y., V. R. Nerurkar, W. M. Dashwood, C. L. Woodward, S. Ablan, C. M. Shikuma, A. Chang H. Grandinetti, H. T. Nguyen, Z. Wu, Y. Yamamura, W. O. Boto, A. Merriwether, T. Kurata, R. Detels, R. Yanagihara, 1999, Genotype and allele frequency of a 32-base pair deletion mutation in the CCR5 gene in various ethnic groups: absence of mutation among Asians and Pacific Islanders, Int. J. Infect. Dis., 3, 186-191
View in Google Scholar

Nguyen L., M. Li, T. Chaowanachan, D. J. Hua, S. Vanichseni, P. A. Mock, Griensven Fv., M. Martin, U. Sangkum, K. Choopany, J. W. Tappero, R. B. Lal, C. Yang, 2004, CCR5 promoter human haplogroups associated with HIV-1 disease progression in Thai injection drug users, AIDS, 18, 1327-1333
View in Google Scholar

Salem A. H., M. A. Batzer, 2007, Distribution of the HIV resistance CCR5-Delta32 allele among Egyptians and Syrians, Mutat. Res., 616, 175-180
View in Google Scholar

Samson M., F. Libert, B. J. Doranz, J. Rucker, C. Liesnard, et al., 1996, Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene, Nature, 382, 722-725
View in Google Scholar