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Maternal germinal mosaicism of X‐linked agammaglobulinemia
Authors:Mariko Sakamoto  Hirokazu Kanegane  Hideki Fujii  Satoshi Tsukada  Toshio Miyawaki  Noriaki Shinomiya
Affiliation:1. Second Department of Pediatrics, Toho University School of Medicine, Tokyo, Japan;2. Department of Pediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama, Japan;3. Department of Molecular Medicine, Osaka University Medical School, Osaka, Japan
Abstract:
X‐linked agammaglobulinemia (XLA) is an immunodeficiency caused by abnormalities in tyrosine kinase (BTK), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of BTK protein and analyzed the BTK gene (BTK) in peripheral blood mononuclear cells from two siblings with XLA and additional family members. Cytoplasmic expression of BTK protein in monocytes was not detected in either patient with XLA. A single base deletion (C563) in BTK‐exon 6, which encodes the TH domain, was identified in both XLA patients. However, normal cytoplasmic expression of BTK protein in monocytes was detected in their mother without any BTK mutation. These results strongly suggest germinal mosaicism in the mother. © 2001 Wiley‐Liss. Inc.
Keywords:X‐linked agammaglobulinemia  BTK protein  BTK gene  germinal mosaicism
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