[Novel frame-shift mutation of 540 A deletion in GP IIb gene from a patient with Glanzmann thrombasthenia].
OBJECTIVE
To explore the molecular mechanism of Glanzmann thrombasthenia (GT).


METHODS
All 45 exons of alphaIIb and beta3 subunit genes as well as their splicing sites were amplified by polymerase chain reaction(PCR) with 40 primer pairs, and then the PCR products were used to screen the gene mutation by single strand conformation polymorphism-polyacrylamide gel electrophoresis (SSCP-PAGE). The mutation was further confirmed by direct DNA sequencing.


RESULTS
A DNA band alterated migration was detected after SSCP-PAGE. DNA sequencing showed that a base deletion within the band at the site of 540 in GPIIb gene(540A) was found.


CONCLUSIONS
The frame-shift mutation caused by the deletion of 540A in GPIIb gene is a novel mutation which is a genetic defect in patients with GT.
Jian
Zai-fu
ZF
Department of Hematology, Xiangya Hospital, Central South University, Changsha, China.
Tang
Fa-qing
FQ
Chen
Fang-ping
FP
Xie
Qin-zhi
QZ
Wang
Guang-ping
GP
D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D039661:Integrin beta3 / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D040201:Platelet Membrane Glycoprotein IIb / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013915:Thrombasthenia / Q000235:genetics*
D039661:Integrin beta3; D040201:Platelet Membrane Glycoprotein IIb