Advanced Maternal Age and the Development of Prader-Willi Syndrome Resulting from Upd(15)mat through Non-disjunction at Meiosis 1

DOI Web Site 参考文献41件
  • Ogata Tsutomu
    Department of Pediatrics, Hamamatsu University School of Medicine
  • Matsubara Keiko
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development Dokkyo Medical University Koshigaya Hospital
  • Nagata Eiko
    Department of Pediatrics, Hamamatsu University School of Medicine
  • Sano Shinichiro
    Department of Pediatrics, Hamamatsu University School of Medicine
  • Murakami Nobuyuki
    Dokkyo Medical University Koshigaya Hospital
  • Nagai Toshiro
    Dokkyo Medical University Koshigaya Hospital

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Advanced maternal age at childbirth is a risk factor for the generation of trisomies such as Down syndrome because of the high frequency of non-disjunction at maternal meiosis 1. Thus, it is predicted that increased childbearing age is also relevant to the generation of maternal uniparental disomies caused by trisomy rescue or gamete complementation with a disomic oocyte produced through non-disjunction at maternal meiosis 1. Here, we report our molecular genetic data for 117 patients with Prader-Willi syndrome. The results indicate that advanced maternal age at childbirth is a predisposing factor for the development of maternal uniparental disomy 15 because of increased meiosis 1 errors. This notion is applicable to other maternal uniparental disomies as well, and provides useful insight into the occurrence of imprinting disorders after artificial reproductive technologies(ART). In particular, it is recommended to perform maternal age-matched comparison for the evaluation of the potential influence of ART on the development of maternal upd.<br>

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