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フルテキストURLB030050000302.pdf ( 836.0KB ) 公開日 2010-04-19
タイトル日本人におけるサラセミアの遺伝子異常
タイトルヨミニホンジン ニオケル サラセミア ノ イデンシ イジョウ
タイトル別表記Gene abnormalities of thalassemia syndromes in Japan
作成者服部, 幸夫
作成者ヨミハットリ, ユキオ
作成者別表記Hattori, Yukio
作成者所属山口大学医学部
内容記述(抄録等)Japanese individuals with thalassemia (thal) are mostly heterozygous and asymptomatic except for microcytosis. The frequency of β-thal in Japan is one in 700-1000, and that of α-thal appears to be one-fifth of β-thal. Mutations for β-thal is heterogenous, with 8 types of mutation comprising almost 80% of all Japanese β-thalassemiacs. About 40% of the mutations seem to have been contacted from abroad. Twenty homozygotes from more than 280 thalassemiacs have been found. Eighteen homozygotes have A-G mutation at the second base of TATA box (-31 A-G) bringing about relatively mild phenotype (β^+). The -31 A-G mutation is most frequent of all Japanese β-thal's. Six rare mutations, despite being heterozygote, showed hemolytic anemia which is also called, ”dominant-type thalassemia”, and some of them demonstrated Heinz bodies in the red blood cells. The microcytosis which is characteristic of all thal, is well compensated for by an increased number of red blood cells. However, dominant-type and homozygotes for β-thal have not been compensated, resulting in anemia. The initiation codon mutations, in particular, have revealed remarkable erythremia. More than half of the α^0-thal found in the Japanese have been of the Southeast Asian type (--SEA), followed by the Filipino type (--FIL). The precise breakpoints for nearly 40% of the α^0-thal mutations remain undetermined. However, rough estimation has suggested heterogenous deletions. The α^+ thal chromosomes which are the base for emerging HbH disease, have been found in 0.25-1.55% of general population.
本文言語jpn
著者キーワード溶血性貧血
αサラセミア
βサラセミア
ドミナント型サラセミア
不安定血色色素症
変異
主題医学
資料タイプtext
ファイル形式application/pdf
出版者山口大学医学会
出版者ヨミヤマグチ ダイガク イガッカイ
NII資料タイプ学術雑誌論文
査読の有無査読あり
ISSN0513-1731
NCIDAN00243156
学内刊行物(紀要等)山口医学
掲載誌名山口医学
50
3
開始ページ637
終了ページ644
発行日2001-06-30
関連情報URL(IsVersionOf)http://ci.nii.ac.jp/naid/110002774076/
権利関係本文データは山口大学医学会の許諾に基づきCiNiiから複製したものである
著者版/出版社版出版社版
リポジトリIDB030050000302
地域区分山口大学
URIhttp://www.lib.yamaguchi-u.ac.jp/yunoca/handle/B030050000302