Gene mutation and expression of SH-3BP-2 in cherubism / 中华口腔医学杂志
Chinese Journal of Stomatology
;
(12): 227-231, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-346728
ABSTRACT
<p><b>OBJECTIVE</b>To detect the mutation and expression of SH-3BP-2 in Chinese patients of cherubism and to investigate the possible relationship of gene mutation and multinucleated giant cells in lesions.</p><p><b>METHODS</b>Genomic DNA was extracted from paraffin-imbedded tissues and peripheral blood samples of 10 cases of cherubism (6 familial cherubism and 4 sporadic cherubism). SH-3BP-2 mutations were detected by PCR-direct sequencing. The nature of multinucleated giant cells in lesions was detected by enzyme histochemical staining and immunohistochemical staining using paraffin-imbedded tissues sections. The SH-3BP-2 protein was detected by immunohistochemical staining.</p><p><b>RESULTS</b>Three missense mutations (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 multinucleated giant cells and parts of monokaryon matrix cells in 8 paraffin-imbedded samples.</p><p><b>CONCLUSIONS</b>The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Cherubism
/
Giant Cells
/
Adaptor Proteins, Signal Transducing
/
Genetics
/
Metabolism
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Stomatology
Year:
2009
Type:
Article
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