[Study of C1423T polymorphism of the von Willebrand factor-cleaving protease gene in Chinese Han population].
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
C1423T polymorphism is low frequency in both controls and patients of Han population.
Gao
Wei-Qiang
WQ
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Wang
Zhao-Yue
ZY
Bai
Xia
X
Ruan
Chang-Geng
CG
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D002545:Brain Ischemia / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor