抄録
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.
本文言語 | 英語 |
---|---|
ページ(範囲) | 185-187 |
ページ数 | 3 |
ジャーナル | Blood |
巻 | 103 |
号 | 1 |
DOI | |
出版ステータス | 出版済み - 1月 1 2004 |
外部発表 | はい |
!!!All Science Journal Classification (ASJC) codes
- 生化学
- 免疫学
- 血液学
- 細胞生物学