Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 267-271, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287410
ABSTRACT
<p><b>OBJECTIVE</b>To determine the inheritance mode and pathogenesis of a family with brachydactyly type A1 in Jining, Shandong province via clinical feature and disease gene analysis.</p><p><b>METHODS</b>Family survey and clinical examinations were performed to determine the inheritance mode; microsatellite polymorphic markers and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)were employed for linkage analysis and mutation screening respectively.</p><p><b>RESULTS</b>The brachydactyly type of the family was type A1 (BDA1), and autosomal dominant inheritance. A missense mutation (G298A) of the indian hedgehog gene (IHH) was identified in the patients of this family.</p><p><b>CONCLUSION</b>A missense mutation G298A of the IHH gene might be the molecular basis for the brachydactyly type A1 in this family from Shandong province.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fenótipo
/
Síndrome
/
Polimorfismo de Fragmento de Restrição
/
Sequência de Bases
/
Família
/
China
/
Deformidades Congênitas dos Membros
/
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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