直近一年間の累計
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ID 111697
タイトル別表記
DNA Analysis of Antithrombin III (AT III) Gene in Three Japanese Kindreds with Congenital AT III Deficiency
著者
宇野, 由佳 徳島大学
重清, 俊雄 徳島大学
斎藤, 史郎 徳島大学
猪本, 享司 香川県立津田病院
キーワード
congenital AT III deficiency
AT III gene
RFLP
資料タイプ
学術雑誌論文
抄録
DNA samples from white blood cells of 9 patients and 10 healthy members in 3 Japanese kindreds (Family Mo, Mi and Tu) with congenital antithrombin III (AT III) deficiency, and of 48 normal Japanese individuals were analysed by Southern blotting method using AT III cDNA probe PA62.
Restriction fragment length polymorphism (RFLP) by uses of Pst I and PA62 demonstrated + allele in 50%, - allele in 50%, F allele in 59% and S allele in 41% of 96 alleles from 48 normal Japanese individuals, indicating that the frequencies of RFLP in Japanese are almost the same as those in other races reported before. This suggests that DNA analysis on Japanese families with congenital AT III deficiency was possible using RFLP of AT III gene because of high frequencies of RFLP in normal Japanese.
All patients in 3 kindreds with congenital AT III deficiency had a -/+ genotype, indicating that complete deletion of one allele of AT III gene can be neglected. No abnormal DNA fragments were observed by Southern blot analysis of genomic DNAs from the patients in the 3 kindreds digested with various restriction enzymes (Bam HI, Eco RI, Hind III, Bgl II, Bcl I, Kpn I, Pvu II, Sac I, Taq I and Xba I). This suggests that AT III deficiency in our 3 kindreds is not caused by major structural alterations such as partial deletion, rearrangement and duplication, small deletion, insertion or limited nucleotide substitution in the AT III gene. In addition, it was suggested by analysis of polymorphism of AT III gene in the members of Family Mo and Mi that abnormal AT III gene existed on -, F allele in these families.
掲載誌名
日本血栓止血学会誌
ISSN
18808808
09157441
cat書誌ID
AN10353762
出版者
日本血栓止血学会
1
6
開始ページ
512
終了ページ
519
発行日
1990
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
歯学系