Summary
We here report the molecular characterization of an Indonesian ovalocytosis. The analysis of genomic gene by polymerase chain reaction shows that the individual has two amplified products from a region encompassing exon 11 of the erythrocyte band 3 gene. The sequence of the larger product matched completely with that of normal individuals. In the sequence of the smaller product, 27 nucleotides within exon 11 disappeared. The deletion removes a total of nine amino acids in the boundary of cytoplasmic and membrane domains of band 3 protein, a membrane anion transporter protein. This is the first report to confirm the heterogeneous presence of an altered membrane band 3 protein in Indonesian ovalocytosis.
Similar content being viewed by others
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): Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci USA88: 11022–11026
Jarolim P, Rubin HL, Zhai S, Sahr KE, Liu S-C, Mueller TJ, Palek J (1992): Band 3 Memphis: A widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by AAG→GAG (Lys→Glu) in codon 56. Blood80: 1592–1598
Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H. (1991): Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest87: 2127–2131
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, Reardon DM, Tanner MJA (1992a). Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells. Nature355: 836–838
Schofield AE, Tanner MJA, Pinder JC, Clough B, Bayley PM, Nash GB, Dluzewski AR, Reardon DM, Cox TM, Wilson RJM, Gratzer WB (1992b): Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol223: 949–958
Sofro A (1986): Ovalocytosis in Indonesia. Medika10: 954–958
Sommer SS, Ketterling RP (1993): A postulated mechanism for deletions with inversions. Am J Hum Genet52: 1016–1018
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
Tanner MJA, Martin PG, High S (1988): The complete amino acid sequence of the human erythrocyte membrane amino-transport protein deduced from the cDNA sequence. Biochem J256: 703–712
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Takeshima, Y., Sofro, A.S., Suryantoro, P. et al. Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis. Jap J Human Genet 39, 181–185 (1994). https://doi.org/10.1007/BF01915953
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01915953
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)
-
Met 235 the polymorphism of angiotensinogen in indonesians
Japanese Journal of Human Genetics (1997)
-
Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia
Japanese Journal of Human Genetics (1997)