Results

RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/12579492http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/12579492http://www.w3.org/2000/01/rdf-schema#comment"

Objective

To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.

Methods

In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation. Then the mutation was identified in other members of the family.

Results

A nucleotide substitution of the splice acceptor in SEDL intron 2, IVS2 -2A-->C,was detected in two affected individuals (IV(15) V(3)) in the Chinese family with SEDL, but no sequence change occurring on exons 3-6 was detected. The transversion was also identified in four heterozygous carriers. The mutation was not found in two unaffected male individuals and fifteen normal controls. Furthermore, four potential carriers were identified in the family.

Conclusion

The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the disease. Molecular diagnosis can be made by detecting the mutation."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Gao C."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Wang H."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Luo Q."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Gao X.Q."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Wang H.L."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Zhou J.H."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Fan Q.T."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Sheng G.Y."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/author"Gao T.Z."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/date"2003"xsd:gYear
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/name"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/pages"15-18"xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/title"[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda]."xsd:string
http://purl.uniprot.org/citations/12579492http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/12579492http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/12579492
http://purl.uniprot.org/citations/12579492http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/12579492
http://purl.uniprot.org/uniprot/#_P0DI81-mappedCitation-12579492http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/12579492
http://purl.uniprot.org/uniprot/P0DI81http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/12579492