Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis.
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.
Takeshima
Y
Y
Division of Genetics, Kobe University School of Medicine, Japan.
Sofro
A S
AS
Suryantoro
P
P
Narita
N
N
Matsuo
M
M
D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D001483:Base Sequence; D004612:Elliptocytosis, Hereditary / Q000235:genetics*; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005091:Exons; D006801:Humans; D007214:Indonesia; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D001457:Anion Exchange Protein 1, Erythrocyte; D009841:Oligonucleotides