Gene mutation and expression of SH-3BP-2 in cherubism
10.3760/cma.j.issn.1002-0098.2009.04.008
- VernacularTitle:巨颌症SH-3BP-2基因突变检测及其蛋白表达
- Author:
You-Wei LI
1
;
Xue-Mei MENG
;
Shi-Feng YU
;
Ping GAO
Author Information
1. 天津医科大学口腔医院
- Keywords:
Cherubim;
Mutation;
Giant ceils;
SH-3BP-2
- From:
Chinese Journal of Stomatology
2009;44(4):227-231
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the mutation and expression of SH-3BP-2 in Chinese patients of cherubism and to investigate the possible relationship of gone mutation and muhinucleated giant cells in lesions. Methods Genomic DNA was extracted from paraffin-embeded tissues and peripheral blood samples of 10 cases of cherubism(6 familial cherubisms and 4 sporadic cherubisras). SH-3BP-2 mutations were detected by PCR-direct sequencing. The nature of multinucleated giant cells in lesions was detected by enzyme histochemieal staining and immunohistochemical staining using paraffin-embeded tissues sections.The SH-3BP-2 protein was detected by immunohistochemical staining. Results Three missense mutaions (G1520A, G1505A, G1505C) in exon 9 of SH-3BP-2 were identified which led to 3 transitions (Gly420Glu, Arg415Gln, Arg415Pro). There were no abnormalities in exon 3 of SH-3BP-2 except 1 case which had not PCR products. The protein SH-3BP-2, the calcitonin receptor and the tartrate-resistant acid phosphatase were detected in the cytoplasm of all muhinucleated giant cells and parts of monocaryon matrix cells in 8 paraffin-embeded samples. Conclusions The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism.
