Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis

Y Takeshima; A S Sofro; P Suryantoro; N Narita; M Matsuo

doi:10.1007/BF01915953

Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis

Jpn J Hum Genet. 1994 Mar;39(1):181-5. doi: 10.1007/BF01915953.

Authors

Y Takeshima¹, A S Sofro, P Suryantoro, N Narita, M Matsuo

Affiliation

¹ Division of Genetics, Kobe University School of Medicine, Japan.

PMID: 8025294
DOI: 10.1007/BF01915953

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Anion Exchange Protein 1, Erythrocyte / genetics*
Base Sequence
Elliptocytosis, Hereditary / genetics*
Erythrocyte Membrane / metabolism*
Exons
Humans
Indonesia
Molecular Sequence Data
Oligonucleotides / genetics*
Polymerase Chain Reaction
Sequence Deletion*

Substances

Anion Exchange Protein 1, Erythrocyte
Oligonucleotides