[WASP gene mutation analysis of a family of X-linked thrombocytopenia].
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.
Department of Pediatrics, First Affiliated Hospital of Medical College of Xi'an Jiaotong University, Xi'an, China. srm1975@sohu.com
Rui-Ming
RM
Shi
Zhi-Gang
ZG
Liu
Yong-Hua
YH
Yang
D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
D051316:Wiskott-Aldrich Syndrome Protein