| Autor: |
Iwase, Satsuki, Ideguchi, Hiroshi, Takao, Mayumi, Horiguchi-Yamada, Junko, Iwasaki, Masafumi, Takahara, Shinobu, Sekikawa, Tetsuaki, Mochizuki, Seibu, Yamada, Hisashi |
| Předmět: |
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| Zdroj: |
Acta Haematologica; 1998, Vol. 100 Issue 4, p200-203, 4p |
| Abstrakt: |
We report a case of spherocytosis associated with erythrocyte band 3 deficiency. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of erythrocyte membrane proteins showed that the patient’s band 3 was reduced to about 80% of the control level. Molecular analysis revealed that this quantitative alteration was accompanied by a novel base change at codon 837 (ACG→GCG) of the AE1 gene, resulting in substitution of alanine for threonine. In bone marrow mononuclear cells, both mutant and wild-type mRNA were comparably detected, suggesting that this mutation interfered with band 3 processing or assembly, leading to impaired accumulation of mutant band 3 in the plasma membrane. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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