WASP gene mutation analysis of a family of X-linked thrombocytopenia / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>This study investigated the history and gene mutations of a family with X-linked thrombocytopenia, in order to understand the clinical characteristic and molecular pathogenesis of the disease.</p><p><b>METHODS</b>A three-generation X-linked thrombocytopenia family with 13 family members was investigated using PCR-DNA direct sequencing method to screen the exons of WASP gene for mutation analysis.</p><p><b>RESULTS</b>The WASP gene sequencing of the proband revealed a missense mutation in exon 2 (G291A), resulting in a change of amino acid 86 from arginine to histidine. The patient's mother was the carrier of the heterozygosis mutation in X-chromosome.</p><p><b>CONCLUSIONS</b>WASP mutations may be attributed to the molecular mechanism of X-linked thrombocytopenia. G291A is one of the mutations of WASP.</p>