X连锁血小板减少症家系WASP基因分析

WASP gene mutation analysis of a family of X-linked thrombocytopenia

摘要:

目的：对X连锁血小板减少症（XLT）家系进行病史调查和WASP基因分析，探讨其临床特点和发病机制。方法：应用PCR扩增，DNA直接测序技术对1例XLT患儿及家族3代人共13名家系成员进行WASP基因突变分析。结果：患儿WASP基因2号外显子291号碱基G/A突变，导致该基因所编码的第86号氨基酸由精氨酸变为组氨酸，为错义突变。患儿母亲为X染色体突变基因杂合子携带者。结论：WASP基因突变是XLT的分子学发病机制，G291A是WASP基因突变位点之一。［中国当代儿科杂志，2010，12（10）：784-787］

Abstract:

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: WASP mutations may be attributed to the molecular mechanism of X-linked thrombocytopenia. G291A is one of the mutations of WASP.［Chin J Contemp Pediatr, 2010, 12 (10):784-787］