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, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2010 Oct;12(10):784-7.
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.
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.
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.
WASP mutations may be attributed to the molecular mechanism of X-linked thrombocytopenia. G291A is one of the mutations of WASP.
本研究对一个X连锁血小板减少症家系进行病史及基因突变调查，以了解该疾病的临床特征及分子发病机制。
采用PCR-DNA直接测序法对一个三代X连锁血小板减少症家系的13名家庭成员进行调查，筛查WASP基因外显子以进行突变分析。
先证者的WASP基因测序显示外显子2发生错义突变（G291A），导致第86位氨基酸由精氨酸变为组氨酸。患者母亲为X染色体杂合子突变携带者。
WASP基因突变可能是X连锁血小板减少症的分子机制。G291A是WASP基因的突变之一。
