[EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses].
OBJECTIVE
To develop a new denaturing high performance liquid chromatograph (DHPLC)-based method to screen patients with EXT gene mutation and to study the gene mutation in three families with multiple exostoses.


METHODS
All the exons of EXT gene, including the intro-exon boundaries, were amplified by PCR. Linkage analysis and DHPLC screening were carried out to identify the mutations. DNA sequencing was used to confirm the mutations.


RESULTS
Two known splice site mutations, IVS2+1 G to A and IVS7+1 G to T, and two SNPs have been detected in EXT2 or EXT1 gene.


CONCLUSIONS
The transversions of IVS2+1 G to A and IVS7+1 G to T in EXT2 gene are suggested to be the disease-causing mutations and the DHPLC is a high throughout, sensitive, simple, quick, economical method to screen gene mutation in hereditary multiple exostosis.
Zhang
Meng
M
National Research Institute for Family Planning, Beijing, 100081 PR China.
Liu
Shi-guo
SG
Li
Fei-feng
FF
Zhou
Wan-hao
WH
Jin
Xiao-hua
XH
Ma
Xu
X
D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1