1995 Fiscal Year Final Research Report Summary
Molecular epidemiological study ovalocytosis in Indonesia
| Project/Area Number |
06041076
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| Research Category |
Grant-in-Aid for international Scientific Research
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| Allocation Type | Single-year Grants |
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| Section | Field Research |
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| Research Institution | Kobe University |
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Principal Investigator |
MATSUO Masafumi Kobe University, School of Medicine, 医学部, 教授 (10157266)
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| Co-Investigator(Kenkyū-buntansha) |
SUMADIONO Gadjah Mada University, Faculty of Medicine, 医学部, 講師
SEOATOMADJI Airlangga University, Faculty of Medicine, 医学部, 教授
ABDUL Sofro Gadjah Mada University, Faculty of Medicine, 医学部, 教授
NISHIO Hiashide Kobe University, School of Medicine, 医学部, 助教授 (80189258)
ISHIDA Takafumi University of Tokyo, Faculty of Science, 理学部, 助手 (20184533)
SHIRAKAWA Taku Kobe University, School of Medicine, 医学部, 助手 (30171044)
NISHIYAMA Kaoru Kobe University, School of Medicine, 医学部, 教授 (00150061)
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| Project Period (FY) |
1994 – 1995
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| Keywords | Ovalocytosis / Erythrocyte / Band 3 protein / Deletion mutation / Indonesia |
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| Research Abstract |
Southeast Asian ovalocytosis (SAO) is a hereditaty from of elliptocytosis resulting in rigid, oval-shaped erythrocytes resistant to invasion by malaria parasites. The molecular basis for SAO was recently identified as a heterogeneous presence of an altered erythrocyte band 3 protein, which lacked nine amino acids at the boundary between cytoplasmic and membrane domains. In order to clarify the mutation responsible for Indonesian ovalocytosis, we analyzed the erythrocyte band 3 protein gene of hereditary ovalocytosis in Rombok, Indonesia.
The Indonesian case was diagnosed to be ovalocytosis, because examination of his peripheral blood smear disclosed 75% of red blood cells were ovalocytic. DNA sample was extracted from blood cells and used as a template for PCR amplification. To determine a mutation in the band 3 gene, 175 bp long region spreading from nt. 1098 to 1272 of band 3 protein cDNA was amplified. From normal DNA only one band was visualized. In contrast, two narrowly separated bands were obtained from Indonesian ovalocytosis case i. e. ; the one slightly smaller than a control, the other comigrating with the control. These results showed that the index case is heterogeneous for the band 3 gene.
The amplified products were sequenced. Normal size product disclosed the sequence completely matched with that of wild type. The smaller amplified product had a 27 nucleotides deletion. These findings confirmed that the Indonesian ovalocyte is also heterozygous for the abnormal band 3 protein that has nine amino acids deletion.
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