Novel mutation of Y271H in EXT1 gene causes multiple exostoses / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 546-550, 2007.
Artigo
em Chinês
| WPRIM
| ID: wpr-813843
ABSTRACT
OBJECTIVE@#To explore the disease associated gene mutation of multiple exostoses by family analysis.@*METHODS@#Polymerase chain reaction and DNA sequencing were used to detect the mutation hot spot regions of EXT1 and EXT2 gene, while restriction fragment length polymorphism was performed to screen the mutation.@*RESULTS@#We found a novel heterozygous mutation c.811T ->C in EXT1 gene of patients, which resulted in the substitution of histidine for tyrosine at codon 271 in this hereditary multiple exostoses family. The mutation was not found in the unaffected family members, nor in the 100 unrelated normal individual, which was unreported before.@*CONCLUSION@#The novel mutation Y271H is the disease-causing mutation in the hereditary multiple exostoses family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Tirosina
/
Polimorfismo de Fragmento de Restrição
/
Exostose Múltipla Hereditária
/
Éxons
/
Mutação da Fase de Leitura
/
N-Acetilglucosaminiltransferases
/
Substituição de Aminoácidos
/
Genética
/
Histidina
/
Mutação
Tipo de estudo:
Estudo de etiologia
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2007
Tipo de documento:
Artigo
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