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フルテキストURLA050059000305.pdf ( 1.1MB ) 公開日 2013-01-30
タイトルFilipino-type β^0-thalassemia has 116 kb deletion: its correct breakpoints and five cases found in Japan
作成者Yamashiro, Yasuhiro
Hattori, Yukio
Nitta, Takenori
Adhiyanto, Chris
Matar, Maryam M.
Ferania, Mella
Takagi, Fumiya
作成者ヨミヤマシロ, ヤスヒロ
ハットリ, ユキオ
ニッタ, タケノリ
アディヤント, クリス
タカギ, フミヤ
作成者別表記山城, 安啓
服部, 幸夫
新田, 孟徳
高木, 文也
作成者所属山口大学大学院医学系研究科(医学)
内容記述(抄録等)Filipino-type β-thalassemia has been reported to have about 45 kb deletion involving β-globin gene and L1 element 3'to it by Southern blot and inverse PCR analyses. However, accurate determination by Junction PCR assigned the 3' breakpoint in a New L1-like sequence far downstream from the L1, or 113 kb apart from the β-globin gene. Thus, the correct deletion is 116.4 kb instead of 45 kb. The 3' flanking region from the junction of the Filipino deletion has complete homology with the New L1-like sequence that has 80% homology with the latter half of the L1 element. The 5' brbreakpoint is exactly the same as reported in the past, and it is not related to the L1 element at all. Thus, Filipino deletion arose as an illegitimate recombination. In addition, the corrected deletion elegantly conform to the results of the past Southern blot analysis which has not been completely explained by the 45 kb deletion. We have found five unrelated cases with Filipino-type β-thalassemia in Japan where it has not been previously discovered. All cases were associated with recent immigration from Philippine, and childbearing between Filipinos and Japanese. Thus internationalization is altering the mutation spectrum of β-thalassemia in Japan. The same is noted in HbE that is endemic in the Southeast Asia.
本文言語eng
著者キーワードβ-thalassemia
Filipino-type
PCR
L1 element
breakpoint
資料タイプtext
ファイル形式application/pdf
出版者Yamaguchi University School of Medicine
NII資料タイプ紀要論文
ISSN0513-1812
NCIDAA00594272
学内刊行物(紀要等)The bulletin of the Yamaguchi Medical School
掲載誌名The bulletin of the Yamaguchi Medical School
59
3-4
開始ページ53
終了ページ59
発行日2012
著者版/出版社版出版社版
リポジトリIDA050059000305
地域区分山口大学
URIhttp://www.lib.yamaguchi-u.ac.jp/yunoca/handle/A050059000305