Caracterización molecular del gen F9 relacionado con la hemofilia tipo B en sujetos de una familia ecuatoriana

Abstract

In the year 2023, in Ambato, Tungurahua, a study was carried out to investigate Hemophilia B type, this disease is caused by factor IX deficiency due to changes in the F9 gene on the X chromosome, is inherited recessively and is sex-linked, affecting mostly males, although female carriers are also affected, the absence of factor IX prevents blood clotting, resulting in a bleeding disorder of varying severity. The main objective was to characterize the F9 gene related to type B hemophilia in an Ecuadorian family, using molecular techniques such as gene extraction, amplification, electrophoresis, sequencing and bioinformatics analysis, DNA was extracted from a blood sample, DNA fragments were amplified by PCR, the presence of amplified DNA was observed by electrophoresis and then Sanger sequencing was performed to identify fragments with alterations in the gene related to Hemophilia type B. Finally, this whole process allowed the evidencing of genetic variations that emerged as a consequence of the genetic analysis, contributing to the knowledge of this disease in the studied population.