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Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B
http://hdl.handle.net/2237/11746
http://hdl.handle.net/2237/1174673837d51-5694-464e-a2da-ac17e35660bd
名前 / ファイル | ライセンス | アクション |
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Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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公開日 | 2009-05-12 | |||||
タイトル | ||||||
タイトル | Skewed X chromosome inactivation in fraternal female twins results in moderately severe and mild haemophilia B | |||||
言語 | en | |||||
その他のタイトル | ||||||
その他のタイトル | 偏ったX 染色体不活性化に伴う二卵性双生児の女性血友病B | |||||
言語 | ja | |||||
著者 |
奥村, 薫
× 奥村, 薫 |
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アクセス権 | ||||||
アクセス権 | open access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
抄録 | ||||||
内容記述 | Female carriers of haemophilia B are usually asymptomatic; however, the disease resulting from different pathophysiological mechanisms has rarely been documented in females. In this study, we investigated the mechanisms responsible for haemophilia B in fraternal female twins. We sequenced the factor IX gene (F9) of the propositus, her father, a severe haemophilia B patient, and the other family members. X chromosome inactivation was assessed by the methylation-sensitive HpaII-PCR assay using X-linked polymorphisms in human phosphoglycerate kinase 1 gene (PGK1) and glutamate receptor ionotropic AMPA 3 gene (GRIA3). The twins were found to be heterozygotes with a nonsense mutation (p.Arg384X) inherited from their father. The propositus, more severely affected twin, exhibited a significantly higher percentage of inactivation in the maternally derived X chromosome carrying a normal F9. The other twin also showed a skewed maternal X inactivation, resulting in a patient with mild haemophilia B. Thus, the degree of skewing of maternal X inactivation is closely correlated with the coagulation parameters and the clinical phenotypes of the twins. Furthermore, we identified a crossing-over in the Xq25.26 region of the maternal X chromosome of the more severely affected twin. This crossing-over was absent in the other twin, consistent with their fraternal state. Differently skewed X inactivation in the fraternal female twins might cause moderately severe and mild haemophilia B phenotypes, respectively. | |||||
言語 | en | |||||
内容記述タイプ | Abstract | |||||
内容記述 | ||||||
内容記述 | 名古屋大学博士学位論文 学位の種類:博士(医療技術学)(課程) 学位授与年月日:平成21年3月25日 | |||||
言語 | ja | |||||
内容記述タイプ | Other | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_db06 | |||||
タイプ | doctoral thesis | |||||
書誌情報 |
発行日 2009-03-25 |
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学位名 | ||||||
言語 | ja | |||||
学位名 | 博士(医療技術学) | |||||
学位授与機関 | ||||||
学位授与機関識別子Scheme | kakenhi | |||||
学位授与機関識別子 | 13901 | |||||
言語 | ja | |||||
学位授与機関名 | 名古屋大学 | |||||
言語 | en | |||||
学位授与機関名 | NAGOYA University | |||||
学位授与年度 | ||||||
学位授与年度 | 2008 | |||||
学位授与年月日 | ||||||
学位授与年月日 | 2009-03-25 | |||||
学位授与番号 | ||||||
学位授与番号 | 甲第8248号 | |||||
フォーマット | ||||||
application/pdf | ||||||
著者版フラグ | ||||||
値 | publisher | |||||
URI | ||||||
識別子 | http://hdl.handle.net/2237/11746 | |||||
識別子タイプ | HDL |