Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 50-53, 2009.
Article
em Zh
| WPRIM
| ID: wpr-287456
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I.</p><p><b>METHODS</b>Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system.</p><p><b>RESULTS</b>A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls.</p><p><b>CONCLUSION</b>The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I.</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Osteogênese Imperfeita
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Patologia
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Linhagem
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Sequência de Bases
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China
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Análise de Sequência de DNA
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Colágeno Tipo I
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Povo Asiático
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Diagnóstico
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Genética
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Article