Gene mutation analysis of a Chinese family with osteogenesis imperfecta / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 192-194, 2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-263820
ABSTRACT
<p><b>OBJECTIVE</b>To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene.</p><p><b>RESULTS</b>A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A.</p><p><b>CONCLUSION</b>The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteogênese Imperfeita
/
Linhagem
/
Análise Mutacional de DNA
/
Sequência de Bases
/
China
/
Colágeno Tipo I
/
Povo Asiático
/
Genética
/
Mutação
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2006
Tipo de documento:
Artigo
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