Twenty-seven base pair deletion in erythrocyte band 3 protein gene responsible for Southeast Asian ovalocytosis is not common among Southeast Asians

Human Biology

Volumn 70, Issue 6, 1998, Pages 993-1000

  Kimura, Masako ^a   Shimizu, Yuko ^a   Settheetham Ishida, Wannapa ^b   Soemantri, Augustinus ^c   Tiwawech, Danai ^d   Romphruk, Amornrat ^b   Duangchan, Phaibool ^e   Ishida, Takafumi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b KHON KAEN UNIVERSITY   (Thailand)

^c DIPONEGORO UNIVERSITY   (Indonesia)

^d NATIONAL CANCER INSTITUTE   (Thailand)

^e SRINAKHARINWIROT UNIVERSITY   (Thailand)

Author keywords

Erythrocyte band 3 protein; Polymorphism; Population genetics; Southeast Asian ovalocytosis (SAO); Southeast Asians

Indexed keywords

BASE PAIRING; DISEASE DETECTION; DISEASE DIAGNOSIS; ERYTHROCYTE; GENE DELETION; GENE FREQUENCY; GENETIC DIFFERENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN GENETICS; OVALOCYTOSIS; PROTEIN GENE; SOUTHEAST ASIA;

ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ASIA, SOUTHEASTERN; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA; ELLIPTOCYTOSIS, HEREDITARY; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENETICS, POPULATION; HUMANS; LYMPHOCYTES; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0032403187     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

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. 42:233-236.
2. Amato, D., and P.B. Booth. 1977. Hereditary ovalocytosis in Melanesians. Papua New Guinea Med. J. 20:26-32.
3. Anderson, E.F. 1993. Plants and People of the Golden Triangle. Bangkok, Thailand: Silkworm Books.
4. Baer, A., L.E. Lie-Injo, Q.B. Welch et al. 1976. Genetic factors and malaria in the Temuan. Am. J. Hum. Genet. 28:179-188.
5. Bonne, C., and J.H. Sandground. 1939. Echinostomiasis in Celebes veroorzaakt door het eten van zoetwatermosselen. Geneeskd. Tijdschr. Ned. Indie 79:3016-3034.
6. Cattani, J.A., F.D. Gibson, M.P. Alpers et al. 1987. Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea. Trans. R. Soc. Trop. Med. Hyg. 81:705-709.
7. Foo, L.C., V. Rekhraj, G.L. Chiang et al. 1992. Ovalocytosis protects against severe malaria parasitemia in the Malayan aborigines. Am. J. Trop. Med. Hyg. 47:271-275.
8. Ganesan, J., L.E. Lie-Injo, and O.B. Poon. 1975. Abnormal hemoglobins, glucose-6-phosphate dehydrogenase deficiency, and hereditary ovalocytosis in the Dayaks of Sarawak. Hum. Hered. 25:258-262.
9. Genton, B., F. Al-Yaman, C.S. Mgone et al. 1995. Ovalocytosis and cerebral malaria. Nature 378:564-565.
10. Ishida, T., J. Suzuki, P. Duangchan et al. 1998. Preliminary report on the short stature of Southeast Asian forest dwellers, the Manni, in southern Thailand: Lack of an adolescent spurt in plasma IGF-I concentration. Southeast Asian J. Trop. Med. Public Health 29 (in press).
11. 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.
12. Jarolim, P., H.L. Rubin, S. Zhai et al. 1992. Band 3 Memphis: A widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG → GAG (Lys → Glu) in codon 56. Blood 80:1592-1598.
13. Lie-Injo, L.E. 1965. Hereditary ovalocytosis and hemoglobin E-ovalocytosis in Malayan aborigines. Nature 208:1329.
14. Lie-Injo, L.E. 1976. Genetic relationships of several aboriginal groups in Southeast Asia. In The Origin of the Australians, R.L. Kirk and A.G. Thorne, eds. Human Biology Series 6, Australian Institute of Aboriginal Studies. Canberra, Australia: Humanities Press, 277-306.
15. Liu, S.-C., P. Jarolim, H. Rubin et al. 1994. The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. Blood 84:3590-3591.
16. Liu, S.-C., S. Zhai, J. Palek et al. 1990. Molecular defect of the band 3 protein in the human erythrocyte membrane. New Engl. J. Med. 323:1530-1538.
17. Martin, R. 1905. Die Inlandstamme der Malayischen Halbinsel. Jena, Germany: Verlag von Gustav Fischer.
18. 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. 90:228-231.
19. Mohandas, N., R. Winardi, D. Knowles et al. 1992. Molecular basis for membrane rigidity of hereditary ovalocytosis. J. Clin. Invest. 89:686-692.
20. Moriyama, R., H. Ideguchi, C.R. Lombordo et al. 1992. Structural and functional characterization of band 3 from Southeast Asian ovalocytosis. J. Biol. Chem. 267:25,792-25,797.
21. Mueller, T.J., and M. Morrison. 1977. Detection of a variant of protein 3, the major transmembrane protein of the human erythrocyte. J. Biol. Chem. 252:6573-6576.
22. Ravindranath, Y., G. Goyette Jr., and R.M. Johnson. 1994. Southeast Asian ovalocytosis in an African American family. Blood 84:2823-2824.
23. Schofield, A.E., M.J.A. Tanner, J.C. Pinder et al. 1992. Basis of unique red cell membrane properties in hereditary ovalocytosis. J. Molec. Biol. 223:949-958.
24. Serjeantson, S., K. Bryson, D. Amato et al. 1977. Malaria and hereditary ovalocytosis. Hum. Genet. 37:161-167.
25. Sofro, A.S. 1986. Ovalocytosis in Indonesia. Medika 10:954-958.
26. 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. 39:181-185.
27. Tanner, M.J.A., L. Bruce, P.G. Martin et al. 1991. Melanesian hereditary ovalocytes have a deletion in red cell band 3. Blood 78:2785-2786.
28. Wang, L., K. Hirayasu, M. Ishizawa et al. 1994. Purification of genomic DNA from human whole blood by isopropanol-fractionation with concentrated NaI and SDS. Nucleic Acids Res. 22:1774-1775.