The Thrombomodulin Gene Mutation G127→A (Ala25Thr) and Cerebrovascular Disease

Autor:	Peter J. Grant, Helen Ireland, Andrew J. Catto, G. Kunz, David A. Lane, Darren Warner
Rok vydání:	2000
Předmět:	Mutation business.industry Point mutation medicine.disease_cause Thrombomodulin medicine.disease Thrombosis Neurology cardiovascular system Cancer research Medicine Neurology (clinical) Cardiology and Cardiovascular Medicine business Gene Thrombomodulin Gene Protein C medicine.drug
Zdroj:	Cerebrovascular Diseases. 10:359-363
ISSN:	1421-9786 1015-9770
DOI:	10.1159/000016091
Popis:	Background and Purpose: Thrombomodulin is an integral part of the protein C anticoagulation pathway, and polymorphisms of its gene have been implicated in thrombosis. The point mutation G127→A has recently been found to be associated with myocardial infarction. Methods: We investigated this mutation in 465 patients with acute stroke and 353 control subjects. Genomic DNA containing the region of interest was amplified by PCR, and differing genotypes were identified by RFLP. Results: The A allele frequency was not statistically significantly different in the two groups, being 0.5% in the stroke group and 0.7% in the control group. Conclusions: The point mutation G127→A is an uncommon finding and, in this population, is unlikely to be a major risk factor for cerebrovascular disease.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::0bbf8847cb8f3e6be2a54bc394b2f117 https://doi.org/10.1159/000016091 Zobrazit plný text záznamu