Advances in the genotyping of thrombosis genetic risk factors: clinical and laboratory implications.

Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk for thrombophilia. Often however, these risk factors have been studied in isolation of theremaining known phenotype linked polymorphisms. This fact has, at least in part, been justified by the laborious techniques traditionally used in the genotyping studies, as well as its relatively high costs. Another major problem concerning these studies has been the non-negligible incidence of dubious genotypes, resulting from the manual, labour intensive techniques applied, and their sometimes difficult to read output's. These difficulties have also hampered the widespread use of genotyping data in the clinical assessment of the genetic risk levels both in patients and their relatives, leaving some clinicians less than convinced about its clinical usefulness. Recently however, the introduction of new genetic techniques in the clinical genetics laboratory has started to change this picture. Most notably, the advent of Real-time-PCR has brought the possibility of genotyping patients and controls at a large scale, with increased specificity, automation and speed. Moreover, the use of these techniques in the clinical genetics setting has not only increased the quality of the results, but most importantly has also increased our capability of answering questions at a deeper level. Among the new questions that can now be answered without increased costs and uncertainty is the study of the association of genetic risk factors in thrombophilia. Our results show that indeed even common polymorphic loci may increase our ability to further discriminate the genetic thrombosis risk of individual patients and relatives. It must however be noted that the innovation level in the clinical genetics lab is just starting to grow. In fact we haven't even started to experience the advantages brought about by the genome program, and its massive identification of SNP's. The technologyto test these is also presently being refined, and is expected to go from research to the clinical lab in the near future. Only then, can we expect to define with high certainty the combined genetic risks forsuch complex pathologies as the thrombophilias.

作 者：

Cabeda JM；Pereira M；Oliveira JM；Estevinho A；Pereira I；Morais S；Justica B；Campos M

刊 名：

Pathophysiology of haemostasis and thrombosis 

年，卷(期)：

2002V.32(no.5/6) 

分类号：

 

关键词：

Clinical  Genetic  genetic risk factors  Thrombophilia  血栓形成倾向

正文语种：

eng 

基金项目：