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.

A combination of strongly associated prothrombotic single nucleotide polymorphisms could efficiently predict venous thrombosis risk

“…The highest frequency is reported in Southeastern Europe and Northern Europe, whereas the lowest frequency is reported in Eastern and Western Europe ( 37 , 38 ). The Leiden mutation prevalence is highest in European descent populations (3%–8%) ( 34 , 39 ), followed by Caucasian Americans (5%). However, it is highly rare in African Americans (1.2%) and Asian-Americans (0.45%) ( 34 ) and absent in Africans ( 40 , 41 ).…”

“…However, it is highly rare in African Americans (1.2%) and Asian-Americans (0.45%) ( 34 ) and absent in Africans ( 40 , 41 ). Similarly, the prothrombin gene mutation/ F2 , often known as the G20210A mutation, is the second most prevalent inheritable VT risk in Caucasians (2%–4%) ( 39 ), particularly those of European ancestry (4%) and Caucasian Americans (2%). However, it is less prevalent in African Americans, accounting for approximately 0.4% (one in 250), and highly rare in Africans and Asians ( 39 , 42 ).…”

Η Επίδραση Της Βασιζόμενης Σε Ενδείξεις Ιατρικής Στην Εξέλιξη Της Σημαντικότητας Μεταξύ Γενετικών Πολυμορφισμών Και Νοσημάτων

“…Το γονίδιο που κωδικοποιεί τον ανθρώπινο παράγοντα V εδράζεται στο χρωμόσωμα 1q21-25 [335][335]. Αυτή η γενετική αλλαγή, επιβραδύνει την πρωτεολυτική αδρανοποίηση του παράγοντα Va από την ενεργοποιημένη πρωτεϊνη C, αυξάνοντας έτσι την παραγωγή της θρομβίνης.…”