Study of C1423T polymorphism of the von Willebrand factor-cleaving protease gene in Chinese Han population / 中华血液学杂志
Chinese Journal of Hematology
; (12): 136-138, 2004.
Article
de Zh
| WPRIM
| ID: wpr-291432
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>The C1423T polymorphism in von Willebrand factor-cleaving protease (vWF-cp) gene affects its enzyme activity. The present study was to investigate the polymorphism frequency among Chinese Han population and its relevance to arterial thrombotic disorders.</p><p><b>METHODS</b>An amplified 366 bp fragment of human vWF-cp gene was analyzed by Rsa I restriction assay in 400 unrelated individuals including 150 with acute ischemic stroke (AIS), 103 with acute myocardial infarction (AMI) and 147 age- and gender-matched healthy controls. The resulting products were analyzed by 12% polyacrylamide gels electrophoresis and stained with ethidium bromide.</p><p><b>RESULTS</b>Twelve cases were C1423T heterozygous, the C1423T frequencies were 98.5% and 1.5%, and the heterozygosity and allele frequency were 3% and 1.5%, respectively, which were remarkably lower than those reported in Japanese population. No 1423T/T homozygote was found. Besides, there was no significant difference between healthy controls and patients with thrombotic disorders.</p><p><b>CONCLUSION</b>C1423T polymorphism is low frequency in both controls and patients of Han population.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Facteur de von Willebrand
/
Études cas-témoins
/
Encéphalopathie ischémique
/
Chine
/
Polymorphisme de nucléotide simple
/
Asiatiques
/
Ethnologie
/
Génétique
/
Infarctus du myocarde
Type d'étude:
Observational_studies
Limites du sujet:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
Pays comme sujet:
Asia
langue:
Zh
Texte intégral:
Chinese Journal of Hematology
Année:
2004
Type:
Article