| Autor: |
Takada H; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. takadah@pediatr.med.kyushu-u.ac.jp, Kanegane H, Nomura A, Yamamoto K, Ihara K, Takahashi Y, Tsukada S, Miyawaki T, Hara T |
| Jazyk: |
angličtina |
| Zdroj: |
Blood [Blood] 2004 Jan 01; Vol. 103 (1), pp. 185-7. Date of Electronic Publication: 2003 Sep 04. |
| DOI: |
10.1182/blood-2003-06-1964 |
| Abstrakt: |
We analyzed the cause of agammaglobulinemia in a girl whose father had been diagnosed as having X-linked agammaglobulinemia (XLA). Flow cytometric analysis revealed the lack of peripheral B cells with the block of B-cell differentiation in the stages between pro-B cells and pre-B cells in the bone marrow, and the defect of the Bruton tyrosine kinase (BTK) expression on monocytes. We found a BTK gene mutation in the first single base pair of intron 11 in her father and heterozygous mutation in the patient at the site. Sequence analysis of abnormally smaller-sized polymerase chain reaction (PCR) products of cDNA confirmed splicing abnormalities due to the mutation. Maternally derived X chromosome was exclusively inactivated in peripheral blood and oral mucosal cells. This is the first report of female XLA caused by heterozygous BTK gene abnormality and extreme nonrandom inactivation of X chromosome on which normal BTK gene is located. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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