Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 481-484, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-288049
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis.</p><p><b>METHODS</b>Inheritance pattern was determined by clinical examination and pedigree analysis. Blood samples were obtained from members of the family. Genomic DNA was extracted and sequenced following PCR amplification. Suspected mutation was confirmed by subclone sequencing and agarose gel electrophoresis.</p><p><b>RESULTS</b>A 27 bp expansion mutation in exon 1 of HOXD13 was identified in all affected individuals from the family but not in unaffected members and normal controls. The mutation has caused insertion of 9 alanines in the polyalanine-expansion region of HOXD13 protein.</p><p><b>CONCLUSION</b>A polyalanine-expansion within the HOXD13 probably underlies the disease in this family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fatores de Transcrição
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Éxons
/
Sindactilia
/
Proteínas de Homeodomínio
/
Povo Asiático
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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