Diagnóstico molecular de las hemofilias a y b mediante la técnica de reacción en cadena de la polimerasa (pcr)

Abstract

Hemophilia is a coagulopathy with Mendelian inheritance that is transmitted through a recessive pattern linked to the X chromosome. It is caused by mutations in the F8 and F9 genes that encode coagulation factors VIII and IX respectively. The genes present structural or molecular alterations, which cause a quantitative or functional deficiency of factor VIII in Hemophilia A, and of factor IX in the case of Hemophilia B. Objective: Describe the PCR technique for the molecular diagnosis of hemophilia A and B through bibliographic review. Methodology: For the development of this project, a descriptive methodology was used, in which the search for information on hemophilia and the molecular diagnostic techniques used to detect this pathology was carried out, through databases, magazine articles. science, books and theses. Results: Through molecular diagnosis, it is possible to know the exact mutation that those affected and women who carry the gene have. The most commonly used techniques are polymerase chain reaction (PCR) and sequencing. Conclusion: Nowadays, molecular biology has molecular diagnostic techniques that detect or quantify the specific sequences of proteins and nucleic acids. For Hemophilia A and B, techniques such as PCR and sequencing are described in the literature, which are characterized by their high sensitivity and specificity, which makes them exact techniques to detect the affected genes of this disease.