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

Material type: 博士論文

Author: 安達, 裕行ほか

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Publication date: 2014-06-01

Material Format: Digital

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Name of awarding university/degree: 秋田大学,博士（医学）

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Note (General)：: Objective: The prevalence of genetic mutations in congenital hypothyroidism (CH) remains undetermined. The objective of this study was to determine th...

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HDL：http://hdl.handle.net/10295/2337

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Material Type: 博士論文
Title: 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
Author/Editor: 安達, 裕行
Adachi, Hiroyuki
Author Heading: 安達, 裕行
Adachi, Hiroyuki
Publication Date: 2014-06-01
Publication Date (W3CDTF): 2014-06-01
Alternative Title: Identification of novel genetic mutations in Japanese patients with severe congenital hypothyroidism
Degree grantor/type: 秋田大学
Date Granted: 2013-09-25
Dissertation Number: 甲第1062号
Degree Type: 博士（医学）
Text Language Code: eng
Subject Heading: congenital hypothyroidism
genes
mutation
prevalence
Target Audience: 一般
Note (General): 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.
Format (IMT): application/pdf
Source: 本文
https://air.repo.nii.ac.jp/record/2300/files/ihakukou1062.pdf
Access Restrictions: インターネット公開
Related Material: HDL
http://hdl.handle.net/10295/2337
Data Provider (Database): 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
Original Data Provider (Database): 秋田大学 : 秋田大学学術情報リポジトリ