Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 140-143, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-349025
ABSTRACT
<p><b>OBJECTIVE</b>To identify the RUNX2 gene mutation in two unrelated Chinese families with cleidocranial dysplasia (CCD), and to assess the feasibility of gene diagnosis for patients with CCD.</p><p><b>METHODS</b>Genomic DNA was isolated from peripheral blood samples of 4 patients and 4 healthy members in the two pedigrees as well as 102 unrelated healthy controls. All 7 coding exons and their flanking intronic sequences of the RUNX2 gene were amplified by PCR, then the PCR products were sequenced bi-directionally. The sequencing results were compared with normal sequences in GenBank to identify the mutation. The mutation was confirmed by RFLP with restriction endonuclease.</p><p><b>RESULTS</b>In one family, a novel heterozygous missense mutation c.346T to A (W116R) in exon 1 of the RUNX2 gene was detected in the two affected individuals, and the mutation was further confirmed with Bsr I restriction endonuclease digestion. In the other family, a novel nonsense mutation c.610A TO T (K204X) was identified in the two patients. No above sequence change was found in the 102 healthy controls.</p><p><b>CONCLUSION</b>Two novel RUNX2 mutations were found in two unrelated Chinese families with cleidocranial dysplasia. The identification of these mutations further extended the mutation spectrum of RUNX2 gene and will facilitate prenatal diagnosis and gene diagnosis of CCD.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Sequência de Bases
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Mapeamento por Restrição
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Estudos de Casos e Controles
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Displasia Cleidocraniana
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Povo Asiático
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Subunidade alfa 1 de Fator de Ligação ao Core
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Genética
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Mutação
Tipo de estudo:
Estudo observacional
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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