A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 147-150, 2006.
Article
em Zh
| WPRIM
| ID: wpr-263832
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the gene mutation in a patient with multiple exostoses, identify the disease-causing gene mutation.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen the EXT1 or EXT2 gene mutation, while mismatch primer amplification and restriction endonuclease digestion were performed to confirm the mutation.</p><p><b>RESULTS</b>By DNA sequencing, a mutation in the seventh intron was detected and located at 26 bp of 3' splice site upstream in EXT1 gene, which was unreported before. Mismatch primer amplification and restriction fragment length polymorphism analysis suggested that this mutation was not detected in the normal control.</p><p><b>CONCLUSION</b>The mutation 1633-26(C-->A) may be the disease-causing mutation in this patient with multiple exostoses.</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Análise Mutacional de DNA
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Exostose Múltipla Hereditária
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N-Acetilglucosaminiltransferases
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Genética
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Mutação
Tipo de estudo:
Etiology_studies
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Prognostic_studies
Limite:
Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Article