Factor V Kuwait: a novel mutation in the coagulation factor V gene discovered in Kuwait
Medical Principles and Practice. 2006; 15 (2): 102-106
em Inglês
| IMEMR
| ID: emr-79520
ABSTRACT
It was the aim of this study to report a new point mutation in the clotting factor V gene in the general Arab population. The HR2 haplotype was tested in 288 Arabs living in Kuwait - 188 patients with venous thromboembolic disorders [VTE] and 100 healthy subjects - using polymerase chain reaction and restriction fragment length polymorphism techniques. The presence of the new mutation was verified by DNA sequencing. Two [1.06%] VTE patients had guanine instead of the wild-type adenine at nucleotide number 3935 [A3935G] of the factor V gene. This mutation caused a histidine to arginine change in amino acid number 1254 of the factor V molecule. The new mutation is termed 'factor V Kuwait' [His1254Arg] and was absent in the 100 healthy subjects. It appears that factor V Kuwait could be a risk factor for developing VTE in Arabs. A larger study is needed to confirm this observation
Buscar no Google
Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Haplótipos
/
Reação em Cadeia da Polimerase
/
Mutação Puntual
/
Trombose Venosa
/
Eletroforese em Gel de Ágar
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Med. Princ. Pract.
Ano de publicação:
2006
Similares
MEDLINE
...
LILACS
LIS