プラスミノゲンアクチベーターインヒビター１（ＰＡＩ‐１）シグナルペプチド遺伝子上の新しいｐｏｌｙｍｏｒｐｈｉｓｍ　１３４０Ｇ／Ａ（‐７Ｖａｌ／Ｉｌｅ）

DOI 被引用文献1件 参考文献33件

書誌事項

タイトル別名
  • A Novel Polymorphism, 1340G/A(-7 Val/Ile), in Signal Peptide Gene of Plasminogen Activator Inhibitor-1(PAI-1).

この論文をさがす

抄録

In two patients, a 36-year-old woman (patient 1) and a 27-year-old man (patient 2), with a history of prolonged, massive bleeding after trauma and/or surgery, we have identified a heterozygous nucleotide exchange of G to A at different positions 1334 and 1340 of the gene for plasminogen activator inhibitor-1 (PAI-1) by single strand conformation polymorphism followed by direct nucleotide sequencing. The G1334A exchange has already been reported to be a polymorphism, but G1340A has not been reported heretofore. These positions correspond to the region encoding the signal peptide of PAI-1, and the nucleotide exchanges necessitate to translate Thr for Ala at position -9 and Ile for Val at position-7, respectively. Since these patients were found to have decreased levels of activity and antigen of PAI-1 in plasma, 12.1U/ml and 9.0ng/ml in patient 1 and 4.1U/ml and 1.8ng/ml in patient 2 (control: 15.0±8.0U/ml and 16.7±7.5ng/ml), respectively, we attempted to see whether these nucleotide enchanges were relevant to the bleeding tendencies by analyzing the relationship between the phenotype (the plasma PAI-1 levels) and the genotype in 30 normal subjects. The genotype of 1334G/A was identified in 6 subjects but none of them were found to have decreased levels of PAI-1. On the other hand, that of 1340G/A was found only in a single subject. Thus the genotype 1334G/A may not be related to the decreased PAI-1 in plasma, whereas the relevance of genotype 1340G/A to the PAI-1 decrease was not decisively clarified. By further analysis of the PAI-1 gene in another 200 healthy subjects, the frequencies for G and A at position 1334 were found to be 0.91 and 0.09, respectively, and for those at positions 1340 were 0.98 and 0.02, respectively.

収録刊行物

被引用文献 (1)*注記

もっと見る

参考文献 (33)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ