Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia
| Autor: | Masafumi Matsuo, Yoes Prijatna Dachlan, Haryanto Alimsardjono, Indri Safitri Mukono |
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| Rok vydání: | 1997 |
| Předmět: |
chemistry.chemical_classification
Genetics Base Sequence Nucleotides Molecular Sequence Data Elliptocytosis Hereditary Exons Biology law.invention Exon genomic DNA chemistry Ovalocytosis law Indonesia Anion Exchange Protein 1 Erythrocyte biology.protein Humans Nucleotide Gene Band 3 Genetics (clinical) Polymerase chain reaction Sequence (medicine) Sequence Deletion |
| Zdroj: | The Japanese journal of human genetics. 42(1) |
| ISSN: | 0916-8478 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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