title: Genetics in the context of thrombophilia.
abstract: Traditionally, genetics is defined as the study of single-gene and chromosomal disorders, inheritance patterns and variation in organisms. Recent developments in molecular genetics have increased our understanding of how genetic traits contribute to common disease. As a result, it is anticipated that genetic technologies will increasingly be integrated into medical practice. Therefore, it is essential that all medical practitioners have an understanding of basic genetic concepts and terminology. The goal of this manuscript is to provide an overview of genetic and genomic terminology in order that health care practitioners may gain a better appreciation of how these concepts may be applied to medical practice. Factor V Leiden, a genetic alteration that results in a hypercoagulable state, is utilized to explore relevant genetic concepts.
authors.affiliation: Division of Molecular and Human Genetics, Columbus Children's Research Institute, Wexner 4, Columbus, OH 43205, USA. vargae@ccri.net
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Varga
mesh_terms: D005165:Factor V; D020022:Genetic Predisposition to Disease; D005826:Genetics, Medical; D023281:Genomics / Q000379:methods; D006801:Humans; D019683:Penetrance; D019851:Thrombophilia / Q000235:genetics
chemical_list: C095381:factor V Leiden; D005165:Factor V