Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 431-434, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-247663
ABSTRACT
<p><b>OBJECTIVE</b>To identify deletion of large fragment in COL1A1/2 genes among patients with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples by a standard SDS-proteinase K-phenol/chloroform method. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect gross deletions of the COL1A1/2 genes among 46 patients affected with OI, in whom no mutation was detected in the sequences of the COL1A1/2 genes.</p><p><b>RESULTS</b>Heterozygous deletions of the entire COL1A1 gene and exon 20 of the COL1A2 gene were detected in probands A and B, respectively, and no gross deletion was found in the remaining 44 samples. The MLPA result of proband A was confirmed by fluorescence quantitative PCR (Q-PCR) in his family. A further conjunction point analysis through gap-PCR and DNA sequencing revealed deletion of exons 17 to 23 in the COL1A2 gene, and a 637 bp-insertion from chromosome 5 in the proband B.</p><p><b>CONCLUSION</b>Two gross deletions have been found in the genes coding for collagen type I in the Chinese OI population, and the deletion of exons 17 to 23 in the COL1A2 gene is a novel mutation. This work not only has expanded the mutation spectrum of the COL1A1/2 gene, but also provided a support for prenatal genetic diagnosis for the families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteogênese Imperfeita
/
Deleção de Genes
/
Colágeno Tipo I
/
Reação em Cadeia da Polimerase Multiplex
/
Genética
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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