| Autor: |
A, Tamura, K, Agematsu, T, Mori, H, Kawai, T, Kuratsuji, M, Shimane, K, Tani, S, Asano, A, Komiyama |
| Rok vydání: |
1994 |
| Předmět: |
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| Zdroj: |
International journal of hematology. 59(2) |
| ISSN: |
0925-5710 |
| Popis: |
A deficiency of defensins (human neutrophil peptides, HNP) has been previously demonstrated in two individuals with congenital neutrophil-specific granule deficiency (SGD), but its genetic basis is not well understood. We have studied another case of SGD, the only case reported in Japan, to elucidate the molecular basis of defensin deficiency. Using Western blot analysis, we showed for the first time that HNP-4, a novel human defensin, was also deficient in the patient's neutrophils. Northern blot analysis demonstrated that the defensin mRNA was absent in the bone marrow cells of the patient. Limited Southern blot analysis, using a defensin cDNA probe, did not reveal any differences in fragment patterns of the genomic DNA between the patient and the control. We propose that the defensin deficiency in our patient is a consequence of a marked decrease in defensin mRNA in neutrophil precursors. Our findings were consistent with a previous speculation suggesting that the SGD defect occurs at the level of transcription. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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