Molecular demonstration of SLC4A1 gene deletion in two Mexican patients with Southeast Asian ovalocytosis

Human Biology

Volumn 77, Issue 3, 2005, Pages 399-405

  Ramos Kuri, Manuel ^a   Farga, Joaquín Carrillo ^b   Zúñiga, Joaquín ^c   Amador Guerrero, María Teresa ^b   Granados, Julio ^d   Estrada, Francisco J ^a  

^a UNIVERSIDAD PANAMERICANA   (Mexico)

^b Intituto de Hematopatología   (Mexico)

^c INSTITUTO NACIONAL DE ENFERMEDADES RESPIRATORIAS   (Mexico)

^d INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

Author keywords

B3 27; Erythrocyte band 3 gene deletion; HLA B*3501; Mexico; Migrational marker; Solute carrier family 4 gene (SLC4A1); Southeast Asian ovalocytosis

Indexed keywords

AMINO ACID; CARRIER PROTEIN; GENOMIC DNA; HLA B ANTIGEN; SOLUTE CARRIER FAMILY 4 PROTEIN; UNCLASSIFIED DRUG;

AMERICAN INDIAN; ARTICLE; ASIAN; BLOOD SAMPLING; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ELLIPTOCYTOSIS; ENDEMIC DISEASE; ETHNIC GROUP; GENE; GENE DELETION; GENETIC MARKER; GENETIC POLYMORPHISM; HLA TYPING; HUMAN; MALARIA; MEXICO; POLYMERASE CHAIN REACTION; SLC4A1 GENE;

EID: 27244431917     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Alimsardjono, H., I. S. Mukono, Y. P. Dachlan et al. 1997. Deletion of twenty-seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia. Jpn. J. Hum. Genet. 42(1):233-236.
2. Arnaiz-Villena, A., G. Vargas-Alarcon, J. Granados et al. 2000. HLA genes in Mexican Mazatecans, the peopling of the Americas, and the uniqueness of Amerindians. Tissue Antigens 56:405-416.
3. Cann, R. L. 2001. Genetic clues to dispersal in human populations: Retracing the past from the present. Science 291:1742-1748.
4. Cao, K., J. Hollenbach, X. Shi et al. 2001. Analysis of the frequencies of HLA-A, B, and C alleles and haplotypes in the five major ethnic groups of the United States reveals high levels of diversity in these loci and contrasting distribution patterns in these populations. Hum. Immunol. 62:1009-1030.
5. Chambers, E. J., G. B. Bloomberg, S. M. Ring et al. 1999. Structural studies on the effects of the deletion in the red cell anion exchanger (band 3, AE1) associated with South East Asian ovalocytosis. J. Mol. Biol. 285:1289-1307.
6. Hollenbach, J. A., G. Thomson, K. Cao et al. 2001. HLA diversity, differentiation, and haplotype evolution in Mesoamerican natives. Hum. Immunol. 62:378-390.
7. Jarolim, P., J. Palek, D. Amato et al. 1991. Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc. Natl. Acad. Sci. USA 88:11,022-11,026.
8. Kimura, M., Y. Shimizu, W. Settheetham-Ishida et al. 1998. Twenty-seven base pair deletion in erythrocyte band 3 protein responsible for Southeast Asian ovalocytosis is not common among Southeast Asians. Hum. Biol. 70(6):993-1000.
9. Kimura, M., A. Soemantri, and T. Ishida. 2002. Malaria species and Southeast Asian ovalocytosis defined by a 27-bp deletion in the erythrocyte band 3 gene. Southeast Asian J. Trop. Med. Public Health 33(1):4-6.
10. Kimura, M., M. Tamam, A. Soemantri et al. 2003. Distribution of a 27-bp deletion in the band 3 gene in South Pacific islanders. J. Hum. Genet. 48(12):642-645.
11. Kumate, J. 2001. Paludismo. In Infectología, J. Kumate, ed. Mexico City: Editorial Méndez Editores.
12. Liu, C., S. Zhai, J. Palek et al. 1990. Molecular defect of the band 3 protein in Southeast Asian ovalocytosis. New Engl. J. Med. 323(22):1530-1537.
13. Liu, S., P. Jarolim, H. L. Rubin et al. 1994. The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. Blood 84(10):3590-3598.
14. Mgone, C. S., G. Koki, M. M. Paniu et al. 1996. Occurrence of the erythrocyte band 3 (AE1) gene deletion in relation to malaria endemicity in Papua New Guinea. Trans. R. Soc. Trop. Med. Hyg. 90(3):228-231.
15. Mohandas, N., R. Winardi, K. Knowles et al. 1992. Molecular basis for membrane rigidity of hereditary ovalocytosis: A novel mechanism involving the cytoplasmic domain of band 3. J. Clin. Invest. 89:686-692.
16. O'Donnell, A., S. J. Allen, C. S. Mgone et al. 1998. Red cell morphology and malaria anemia in children with Southeast Asian ovalocytosis band 3 in Papua New Guinea. Br. J. Haematol. 101(3):407-412.
17. Rabe, T., R. Jambou, L. Rabarijaona et al. 2002. South-East Asian ovalocytosis among the population of the Highlands of Madagascar: A vestige of the island's settlement. Trans. R. Soc. Trop. Med. Hyg. 96(2):143-144.
18. Ravindranath, Y., G. Goyette Jr., and R. M. Johnson. 1994. Southeast Asian ovalocytosis in an African American family. Blood 84(8):2823-2824.
19. Schischmanoff, P. O., T. Cynober, F. Miélot et al. 1999. Southeast Asian ovalocytosis in white persons. Hemoglobin 23(1):47-56.
20. Takeshima, Y., A. S. Sofro, P. Suryantoro et al. 1994. Twenty-seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis. Jpn. J. Hum. Genet. 39(1):181-185.
21. Tanner, M. J. A., L. Bruce, and P. G. Martin. 1991. Melanesian hereditary ovalocytes have a deletion in red cell band 3. Blood 78(10):2785-2786.
22. Vargas-Alarcon, G., G. Hernandez-Pacheco, J. Zuniga et al. 2003. Distribution of HLA-B alleles in Mexican Amerindian populations. Immunogenetics 54:756-760.
23. Wang, D. 1994. Band 3 protein: Structure, flexibility, and function. FEBS Lett. 346:26-31.
24. Wrong, O., L. J. Bruce, R. J. Unwin et al. 2002. Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis. Kidney Int. 62:10-19.
25. Yenchistomanus, P. T. 2003. Human anion exchanger 1 mutations and distal renal tubular acidosis. Southeast Asian J. Trop. Med. Public Health 34(3):651-658.
26. Yusoff, N. M., H. V. Rostenberghe, T. Shirakawa et al. 2003. High prevalence of Southeast Asian ovalocytosis in Malays with distal tubular acidosis. J. Hum. Genet. 48:650-653.