EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 646-651, 2007.
Article
in Zh
| WPRIM
| ID: wpr-229853
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
DNA Mutational Analysis
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Exostoses, Multiple Hereditary
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Exons
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Chromatography, High Pressure Liquid
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N-Acetylglucosaminyltransferases
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Electrophoresis, Polyacrylamide Gel
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Genetics
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Methods
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Mutation
Limits:
Adult
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2007
Type:
Article