Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis

DOI
  • Hou Qiaofang
    Department of Medical Genetic Center, Henan Province People's Hospital
  • Chu Yan
    Department of Medical Genetic Center, Henan Province People's Hospital
  • Guo Qiannan
    Department of Medical Genetic Center, Henan Province People's Hospital
  • Wu Dong
    Department of Medical Genetic Center, Henan Province People's Hospital
  • Liao Shixiu
    Department of Medical Genetic Center, Henan Province People's Hospital

書誌事項

タイトル別名
  • Mutations in the <i>RS1</i> gene in a Chinese family with X-linked juvenile retinoschisis

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抄録

The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions were amplified by polymerase chain reaction (PCR), followed by direct sequencing. Through our genetic analysis, one frameshift 573delG mutation was identified in the patients of this four-generation pedigree; however, this mutation was absent in normal or non-carrier subjects. In conclusion, this 573delG mutation is reported in the Chinese population for the first time. This mutation widens the mutational spectrum of RS1 in Asians. Identification of mutations in the RS1 gene and expanded information on clinical manifestations will facilitate early diagnosis, appropriate early therapy, and genetic counseling regarding the prognosis of XLRS.

収録刊行物

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 1 (1), 30-34, 2012

    特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

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