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X连锁血小板减少症家系WASP基因分析 预览 被引量:1

WASP gene mutation analysis of a family of X-linked thrombocytopenia
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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。 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.
作者 史瑞明 刘志刚 杨永华 SHI Rui-Ming,LIU Zhi-Gang,YANG Yong-Hua. Department of Pediatrics,First Affiliated Hospital of Medical College of Xi'an Jiaotong University,Xi'an 710061,China
出处 《中国当代儿科杂志》 CAS CSCD 北大核心 2010年第10期784-787,共4页 Chinese Journal of Contemporary Pediatrics
关键词 X连锁血小板减少症 基因突变 儿童 X-linked thrombocytopenia Gene mutation Child
作者简介 史瑞明,女,硕士,主治医师。
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同被引文献25

  • 1张玉珏 ,董治亚 ,王晓川 ,陈舜年 .Wiskott-Aldrich综合征孪生双胎临床及基因突变检测[J].临床儿科杂志,2004,22(9):632-633. 被引量:2
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