Novel frame-shift mutation of 540 A deletion in GP IIb gene from a patient with Glanzmann thrombasthenia.
- Author:
Zai-fu JIAN
1
;
Fa-qing TANG
;
Fang-ping CHEN
;
Qin-zhi XIE
;
Guang-ping WANG
Author Information
1. Department of Hematology, Xiangya Hospital, Central South University, Changsha, China.
- Publication Type:Journal Article
- MeSH:
Base Sequence;
Child, Preschool;
Exons;
genetics;
Frameshift Mutation;
genetics;
Gene Deletion;
Humans;
Integrin beta3;
genetics;
Male;
Molecular Sequence Data;
Platelet Membrane Glycoprotein IIb;
genetics;
Sequence Analysis, DNA;
Thrombasthenia;
genetics
- From:
Journal of Central South University(Medical Sciences)
2008;33(2):165-168
- CountryChina
- Language:Chinese
-
Abstract:
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.
CONCLUSION: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.
