Mutation detection in SH3BP2 gene in a cherubism family.
- Author:
Cui-ying LI
1
;
Shi-feng YU
Author Information
- Publication Type:Journal Article
- MeSH: Adaptor Proteins, Signal Transducing; genetics; Adult; Cherubism; genetics; Child; DNA Mutational Analysis; Exons; genetics; Female; Humans; Infant; Male; Middle Aged; Mutation, Missense; genetics; Pedigree
- From: Chinese Journal of Stomatology 2006;41(6):368-371
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect SH3BP2 gene mutation in a cherubism family.
METHODSPeripheral blood samples were obtained from the family of cherubism. Genomic DNA was extracted. Polymerase chain reaction and direct sequencing were performed to identify the mutation.
RESULTSA transition in exon 9 in SH3BP2 gene was detected in the family, which led to a missense mutation (Arg 415 Pro).
CONCLUSIONSMissense mutation in the SH3BP2 gene was responsible for the phenotypes of this Chinese cherubism family.
