[Denaturant gradient gel electrophoresis in the genetic diagnosis of hereditary multiple exostoses].
OBJECTIVE
To detect the mutations of EXT2 gene in hereditary multiple exostoses (HME) families and to investigate the sensitivity of denaturant gradient gel electrophoresis (DGGE) in screening the mutations in EXT2 gene.


METHODS
Five HME families and 3 sporadic patients were screened for the mutation detection in all exons of EXT2 gene covering the coding sequence and the flanking intronic sequence by DGGE, and DNA sequencing was performed for products with abnormal conformation.


RESULTS
Among these HME patients, we found 2 disease-causing mutations: A313T (nonsense mutation) and 319 insGT (frameshift mutation).


CONCLUSIONS
Two mutations of EXT2 gene are identified in the sample. DGGE can be an ideal choice for gene diagnoses of HME.
He
Hong-Bo
HB
Department of Orthopaedics, Xiangya Hospital, Central South University, Changsha, China. hehongbo@cnlmg.com
Hu
Zheng-Mao
ZM
Li
He-Jun
HJ
Zhu
Yong
Y
Shi
Xiao-Liu
XL
Lei
Guang-Hua
GH
Zhou
Jiang-Nan
JN
Li
Kang-Hua
KH
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099065:Exostosin 2; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2