Sickle cell anemia-associated beta-globin mutation in shagia and manasir tribes from sudan

• Autorzy: Kempinska-Podhorodecka A. , Knap O. M. , Parczewski M. , Binczak-Kuleta A. , Ciechanowicz A.
• Języki publikacji: EN

Abstrakty

EN

Sickle cell anemia is common in Africa, because it is selected by the pressure related to infection with Plasmodium spp. However, its distribution varies locally, especially in isolated populations. The aim of this study was to analyze the frequency of the HbS mutation in two local tribes of Arab origin, the Shagia and Manasir, which are both from the region of the 4th Nile cataract. The Shagia cohort investigated represents an isolated homogenous population and was relocated recently owing to construction of a dam; the Manasir cohort had significant admixtures from other tribes. Anthropological data and buccal swabs were collected from 126 Shagia and 90 Manasir representatives from the area and were analyzed using a PCR/RFLP assay specific for HbS, with confirmation by sequencing. The S mutation in the HBB gene was not detected among the Shagia and Manasir individuals investigated. The HbS AA genotype and A allele frequency therefore showed a prevalence of 100% in both groups. Lack of HbS mutation of the HBB gene in the previously unstudied Shagia group confirms that the frequency of the sickle cell gene in Sudan is tending to decrease in a northerly direction.

• Wydawca: -
• Czasopismo: Polish Journal of Environmental Studies
• Rocznik: 2011
• Tom: 20
• Numer: 6
• Opis fizyczny: p.1525-1530,fig.,ref.

Twórcy

autor

Kempinska-Podhorodecka A.

• Medical Biology Laboratory,

autor

Knap O. M.

• Independent Laboratory of Disaster Medicine,

autor

Parczewski M.

• Chair and Clinic of Infectious Diseases,

autor

Binczak-Kuleta A.

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland

autor

Ciechanowicz A.

• Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland

Bibliografia

• 1. CAMPBELL MC., TISHKOFF S.A. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu. Rev. Genomics Hum. Genet. 9, 403, 2008.
• 2. TISHKOFF S.A., REED F.A., FRIEDLAENDER F.R., EHRET C., RANCIARO A., FROMENT A., HIRBO J.B., AWOMOYI A.A., BODO J.M., DOUMBO O., IBRAHIM M., JUMA A.T., KOTZE M.J., LEMA G., MOORE J.H., MORTENSEN H., NYAMBO T.B., OMAR S.A., POWELL K., PRETORIUS G.S., SMITH MW., THERA M.A., WAMBEBE C., WEBER J.L., WILLIAMS S.M. The genetic structure and history of Africans and African Americans. Science 324, (5930), 1035, 2009.
• 3. MANOLIO T.A., COLLINS F.S., COX N.J., GOLDSTEIN D.B., HINDORFF L.A., HUNTER D.J., MCCARTHY M.I., RAMOS E.M., CARDON L.R., CHAKRAVARTI A., CHO J.H., GUTTMACHER A.E., KONG A., KRUGLYAK L., MARDIS E., ROTIMI C.N., SLATKIN M., VALLE D., WHITTEMORE A.S., BOEHNKE M., CLARK A.G., EICHLER E.E., GIBSON G., HAINES J.L., MACKAY T.F., MCCARROLL S.A., VISSCHER M. Finding the missing heritability of complex diseases. Nature, 461, (7265), 747, 2009.
• 4. PAULING L., ITANO H., SINGER S., WELLS I. Sickle Cell Anemia. Science, 2865, (110), 543, 1949.
• 5. STUART M.J., NAGEL R.L. Sickle-cell disease. Review. Lancet, 364, (9442), 1343, 2004.
• 6. SOKHNA C.S., ROGIER C., DIEYE A., TRAPE J.F. Host factors affecting the delay of reappearance of Plasmodium falciparum after radical treatment among a semi-immune population exposed to intense perennial transmission. Am. J. Trop. Med. Hyg. 62, (2), 266, 2000.
• 7. ACKERMAN H., USEN S., JALLOW M., SISAY-JOOF F., PINDER M., KWIATKOWSKI D.P. A comparison of case-control and family-based association methods: the example of sickle-cell and malaria. Ann. Hum. Genet. 69, (5), 559, 2005.
• 8. WILLIAMS T.N., MWANGI T.W., ROBERTS D.J., ALEXANDER N.D., WEATHERALL D.J., WAMBUA S.,KORTOK M., SNOW R.W., MARSH K. An immune basis for malaria protection by the sickle cell trait. PLoS Med. 2, (5), 128, 2005.
• 9. NAGEL R.L., FLEMING A.F. Genetic epidemiology of the βs gene. Bailliere’s Clinical Haematology 5, (2), 1995.
• 10. MAKANI J., WILLIAMS T.N., MARSH K. Sicle cell disease in Africa: burden and research priorities. Ann. Trop. Med. Parasitol. 101, (1), 3, 2007.
• 11. DIALLO D.A. Sickle cell disease in Africa: current situation and strategies for improving the quality and duration of survival. Bull. Acad. Natl. Med. 192, (7), 1361, 2008.
• 12. ABDELRAHIM O.M., BEKHIETA A. Relationship of the Sickle Cell Gene to the Ethnic and Geographic Groups Populating the Sudan. Community Genetics 9, 113, 2006.
• 13. TSHILOLO L., AISSI L.M., LUKUSA D., KINSIAMA C., WEMBONYAMA S., GULBIS B., VERTONGEN F. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns. J. Clin. Path. 62, 35, 2009.
• 14. Encyclopedia Britannica online. Originally appearing in Volume V24, Page 769 of the 1911 edition.
• 15. AYATOLLAHI M., ZAKERINIA M., HAGHSHENAS M. Molecular analysis of Iranian families with sickle cell disease. J Trop Pediatr. 51, 136, 2005.
• 16. NASR A., ELGHAZALI G., GIHA H., TROYEBLOMBERG M., BERZINS K. Interethnic differences in carriage of haemoglobin AS and Fcgamma receptor Iia (CD32) genotypes in children living in eastern Sudan. Acta Trop. 105, (2), 191, 2007.
• 17. MEARS J.G., BELDJORD C., BENABADJI M., BELGHITI Y.A., BADDOU M.A., LABIE D, NAGEL R.L. The Sickle Gene Polymorphism in North Africa. Blood 58, (3), 1981.
• 18. PAGNIER I., MEARS J.G., DUNDA-BELKHODJA O., SHAEFER-REGO K.E., BELDJORD C., NAGEL R.L., LABIE D. Evidence for the multicenric origin of the sickle cell hemoglobin gene in Africa. Proc. Nat. Acad. Sci. USA. 81, 1771, 1984.
• 19. BEREIR R.E., HASSAN H.Y., SALIH N.A., UNDERHILL P.A., CAVALLI-SFORZA L., HUSSAIN A. A., KWIATKOWSKI D., IBRAHIM M.E. Co-introgression of Y-chromosome haplogroups and the sickle cell gene across Africa's Sahel. Europ. J. Hum. Gen. 15, 1183, 2007.
• 20. ONER C., DIMOVSKI A.J., OLIVIERI N.F., SCHILIRO G., CODRINGTON J.F., FATTOUM S., ADEKILE A.D., ONER R., YUREGIR G.T., ALTAY C.: Beta S haplotypes in various world populations. Hum. Genet. 89, (1), 99, 1992.
• 21. EL-HAZMI M.A.F. β-Globin gene polymorphism In the Saudi Arab population. Hum. Genet. 73, 31, 1986