Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 15-18, 2008.
Artigo
em Chinês
| WPRIM
| ID: wpr-229830
ABSTRACT
<p><b>OBJECTIVE</b>To identify the SEDL gene mutation in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda (SEDL) and to establish a genotyping assay for rapid diagnosis of this X-linked recessive disorder.</p><p><b>METHODS</b>Clinical diagnoses were made based on physical examination, radiological examination and pedigree analysis for this family. Four primer pairs flanking the SEDL exons 3-6 including their exon/intron boundaries were designed. A rapid genotyping assay based on denaturing high performance liquid chromatography (DHPLC) was established to screen the point mutations of the SEDL gene. Genomic DNA was extracted by standard methods from 18 members in the three generations of the pedigree and subjected to PCR-denaturing high performance liquid chromatography (PCR-DHPLC) assay followed by direct DNA sequencing.</p><p><b>RESULTS</b>A c.218C>T mutation in exon 4 of the SEDL gene, which resulted in a substitution of serine 218 with leucine, was identified in this family. Among the 18 members, 3 patients, 5 obligate female carriers and 2 unmarried young females were found to have the missense mutation, and other 8 healthy individuals were not detected to carry the mutation, in which genotype-phenotype correlations were well established in each member investigated in this family.</p><p><b>CONCLUSION</b>A c.218C>T missense mutation in the SEDL gene was firstly reported in Chinese population and the results of this study expand the spectrum of SEDL mutations. The PCR-DHPLC assay is a useful tool to rapidly detect the SEDL mutation in clinical and prenatal diagnosis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Linhagem
/
Proteínas de Membrana Transportadoras
/
Fatores de Transcrição
/
Análise Mutacional de DNA
/
Sequência de Bases
/
Família
/
Reação em Cadeia da Polimerase
/
Éxons
/
Cromatografia Líquida de Alta Pressão
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Artigo
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