日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定

• 資料種別: 博士論文
• タイトル: 日本人重症先天性甲状腺機能低下症患者における新規遺伝子異変の同定
• 著者・編者: 安達, 裕行; Adachi, Hiroyuki
• 著者標目: 安達, 裕行; Adachi, Hiroyuki
• 出版年月日等: 2014-06-01
• 出版年（W3CDTF）: 2014-06-01
• 並列タイトル等: Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism
• 授与機関名: 秋田大学
• 授与年月日: 2013-09-25
• 報告番号: 甲第1062号
• 学位: 博士（医学）
• 本文の言語コード: eng
• 件名標目: congenital hypothyroidism; genes; mutation; prevalence
• 対象利用者: 一般
• 一般注記: 出版タイプ： VoR; Objective: The prevalence of genetic mutations in congenital hypothyroidism (CH) remains undetermined. The objective of this study was to determine the prevalence of mutations in DUOX2, TSHR, TG, PAX8, and TPO among severe permanent primary CH. Methods: Between April 1999 and March 2011, 114,733 newborns were screened for CH in Akita Prefecture, Japan. Among them, 330 were suspected of having CH and were referred to pediatricians. We recruited 40 patients who were referred to our institute. Among them, we identified 9 permanent primary CH patients who were severel y affected with an initial TSH .20 mU/l upon newborn screening and performed direct sequencing of the 5 candidate genes. Results: 3 of 9 patients (33%) had mutations in PAX8, TPO, and TSHR. Among the severely affected subjects, 60% had thyroid dysgenesis (TD), while for patients with initial TSH upon screening <20 mU/l only 12% had TD. Conclusions: Despite the high frequency of TD, the detection rate of mutations among severe permanent primary CH was higher than expected. This study suggests that the genetic analysis of 5 genes, namely, DUOX2, TSHR, TG, PAX8, and TPO, is useful for the diagnosis of CH, and that the actual prevalence of genetic mutations among CH might be higher than as previously estimated.
• オンライン閲覧公開範囲: インターネット公開
• 関連情報: http://hdl.handle.net/10295/2337
• 連携機関・データベース: 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）; https://irdb.nii.ac.jp
• 提供元機関・データベース: 秋田大学 : 秋田大学学術情報リポジトリ