Summary
This study reports the molecular characterization of ovalocytosis in Lombok Island, Indonesia. The analysis of genomic DNA by polymerase chain reaction shows that all 21 ovalocytotic individuals have two amplified products of different size from a region encompassing exon 11 of the band 3 gene. The sequence of the larger product matched perfectly with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 were deleted. The heterozygous presence of the deletion identified in other parts of Southeast Asia was confirmed in patients with ovalocytosis in an isolated island of eastern Indonesia.
Article PDF
References
Flint J, Harding RM, Clegg JB, Boyce AJ (1993): Why are some genetic diseases common? Hum Genet91: 91–117
Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu S-C (1991): Delection in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci USA88: 11022–11026
Liu S-C, Jarolim P, Rubin HL, Palek J (1994): The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. Blood84: 3590–3598
Mohandas N, Winardi R, Knowles D, Leung A, Parra M, George E, Conboy J, Chasis J (1992): Molecular basis for membrane rigidity of hereditary ovalocytosis. A novel mechanism involving the cytoplasmic domain of band 3. J Clin Invest89: 686–692
Schofield AE, Tanner MJA, Pinder JC, Clough B, Bayley PM, Nash GB, Dluzewski AR, Reardon DM, Cox TM, Wilson RJM, Gratzer WB (1992): Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol223: 949–958
Takeshima Y, Sofro AS, Suryantoro P, Narita N, Matsuo M (1994): Twenty seven nucleotides deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis. Jpn J Human Genet39: 181–185
Tanner MJA, Martin PG, High S (1988): The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence. Biochem J256: 703–712
Tanner MJA, Bruce L, Martin PG, Reardon DM, Jones GL (1991): Melanesian hereditary ovalocytes have a deletion in red cell band 3. Blood78: 2785–2787
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Alimsardjono, H., Mukono, I.S., Dachlan, Y.P. et al. Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia. Jap J Human Genet 42, 233–236 (1997). https://doi.org/10.1007/BF02766927
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02766927
Key Words
This article is cited by
-
High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
Journal of Human Genetics (2003)