| Autor: |
AZENISHI, YASUHIKO, UEDA, ETSUKO, MACHII, TAKASHI, NISHIMURA, JUN-ICHI, HIROTA, TOSHIYUKI, SHIBANO, MASARU, NAKAO, SHINJI, KINOSHITA, TAROH, MIZOGUCHI, HIDEAKI, KITANI, TERUO, Machii, Takashi |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Mar1999, Vol. 104 Issue 3, p523-529, 7p, 1 Diagram, 1 Graph |
| Abstrakt: |
Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We investigated the frequency of the development of PNH features including a glycosyl phosphatidylinositol (GPI) anchoring defect in 73 Japanese patients with AA. A deficient expression of CD59 was found on erythrocytes and/or granulocytes in 21/73 (28.8%) of the patients. A Ham/sugar water test was positive in 13/21 patients. We also examined mutations of the PIG-A gene in 11 patients with CD59 deficiency. A heteroduplex analysis detected PIG-A gene abnormality in 10/11 patients tested. Nucleotide sequencing was performed in six patients and identified eight mutations including three mutations in one patient. The mutations of the PIG-A gene were all different and included two single-base insertions, one single-base deletion, two two-base deletions, and one each of eight-base insertion and nine- and ten-base deletions. All mutations but one caused frameshifts. Our findings indicate that a high proportion of Japanese patients with severe AA have a GPI-anchoring defect and that the PIG-A gene is mutated in the AA patients who had a GPI deficiency. We found no significant difference in the pattern of the PIG-A gene mutation between the AA patients with a GPI deficiency and those with de novo PNH. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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