國家衛生研究院 NHRI:Item 3990099045/2297
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    题名: Type II collagen gene variants and inherited osteonecrosis of the femoral head
    作者: Liu, YF;Chen, WM;Lin, YF;Yang, RC;Lin, MW;Li, LH;Chang, YH;Jou, YS;Lin, PY;Su, JS;Huang, SF;Hsiao, KJ;Fann, CSJ;Hwang, HW;Chen, YT;Tsai, SF
    贡献者: Division of Molecular and Genomic Medicine
    摘要: BACKGROUND: Avascular necrosis of the femoral head (ANFH) causes disability that often requires surgical intervention. Most cases of ANFH are sporadic, but we identified three families in which there was autosomal dominant inheritance of the disease and mapped the chromosomal position of the gene to 12q13. METHODS: We carried out haplotype analysis in the families, selected candidate genes from the critical interval for ANFH on 12q13, and sequenced the promoter and exonic regions of the type II collagen gene (COL2A1) from persons with inherited and sporadic forms of ANFH. RESULTS: We identified a G(rightarrow)A transition in exon 50 of COL2A1 in affected members of a four-generation family with ANFH. This transition predicts the replacement of glycine with serine at codon 1170 in a GXY repeat of type II collagen. Another pedigree was shown to harbor the same transition, but the mutant allele occurred on a different haplotype background. In a third family, a G(rightarrow)A transition in exon 33 of the gene, causing a glycine-to-serine change at codon 717, was detected. No mutation was found in the COL2A1 coding region in sporadic cases of ANFH. CONCLUSIONS: All the patients with familial ANFH whom we studied carried COL2A1 mutations. In families with ANFH, haplotype and sequence analysis of the COL2A1 gene can be used to identify carriers of the mutant allele before the onset of clinical symptoms, allowing the initiation of measures that may delay progression of the disease.
    关键词: Medicine, General & Internal
    日期: 2005-06-02
    關聯: New England Journal of Medicine. 2005 Jun;352(22):2294-2301.
    Link to: http://dx.doi.org/10.1056/NEJMoa042480
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0028-4793&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000229446400006
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=21144442481
    显示于类别:[蔡世峯] 期刊論文
    [周玉山(1996-2005)] 期刊論文
    [黃秀芬] 期刊論文

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