Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 95-98, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-232196
ABSTRACT
<p><b>OBJECTIVE</b>To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.</p><p><b>RESULTS</b>For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported.</p><p><b>CONCLUSION</b>No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sequência de Bases
/
Íntrons
/
China
/
Exostose Múltipla Hereditária
/
Éxons
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N-Acetilglucosaminiltransferases
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Povo Asiático
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Diagnóstico
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Genética
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Genótipo
Tipo de estudo:
Estudo diagnóstico
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Estudo de rastreamento
Limite:
Adolescente
/
Adulto
/
Idoso
/
Aged80
/
Criança
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Criança, pré-escolar
/
Feminino
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Humanos
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Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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