Investigation of the origin of hypoxanthine guanine phosphoribosyltransferase( HPRT1)mutation using mitochondrial DNA polymorphisms.

DOI
  • Mizunuma Makiko
    Department of Internal Medicine, Teikyo University School of Medicine
  • Fujimori Shin
    Department of Internal Medicine, Teikyo University School of Medicine
  • Ogata Eri
    Department of Internal Medicine, Teikyo University School of Medicine
  • Ogata Nobuyuki
    Department of Internal Medicine, Teikyo University School of Medicine
  • Kawasaki Takahiro
    Department of Internal Medicine, Teikyo University School of Medicine
  • Yamanouchi Toshikazu
    Department of Internal Medicine, Teikyo University School of Medicine
  • Kamatani Naoyuki
    Institute of Rheumatology, Tokyo Women's Medical University

Bibliographic Information

Other Title
  • ミトコンドリア遺伝子多型を用いたHypoxanthine guaninephosphoribosyltransferase遺伝子変異の起源の推定

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Description

Lesch-Nyhan syndrome (LNS) is caused by a severe genetic deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT). More than 200germline mutations involved in HPRT deficiency have been identified through research in Europe, American and Japan. Most of the mutations (80% or more) are caused by the variety of point mutations located in the HPRT gene (HPRT1). On the other hand, although large genomic alterations account for 20% or less of the mutations, they have not been characterized in detail. By new analysis methods including the Long PCR method, we previously identified at the genomic level an identical large deletion mutation consisting of 2,969 base pairs (bp)expanding from the promoter region to the intron 1 in HPRT1 in two Japanese LNS patients. However, the blood relationship of the patient for two patients was not clarified on a genome level. In order to investigate whether this deletion was a recurrent mutation, we observed whether mitochondrial DNA (mtDNA)and HPRT1 mutations were co-transmitted, and analyzed mtDNA polymorphisms. Consequently, we have confirmed the separate origin of the HPRT1mutation of the two LN patients as assessed with an apparent mtDNA polymorphism. The identical mutation period was reported in Europe, suggesting strongly that Alu-mediated deletion mutation of 2,969by happened at the mutational hot spot of HPRT1.

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Details 詳細情報について

  • CRID
    1390001205447533056
  • NII Article ID
    130004596498
  • DOI
    10.6032/gnam1999.26.1_19
  • COI
    1:CAS:528:DC%2BD38XosVCjtb8%3D
  • ISSN
    13449796
  • Text Lang
    ja
  • Data Source
    • JaLC
    • Crossref
    • CiNii Articles
  • Abstract License Flag
    Disallowed

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