Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

F5 gene (Coagulation Factor V)

The most common risk factor for inherited thrombophilia is the F5 gene (Coagulation Factor V), a point mutation (c.1691G>A, FV Leiden) in the gene encoding coagulation factor V. Normally, the natural anticoagulant activated protein C (APC) cleaves and inactivates factor Va (FVa) along three arginine amino acids. The FV Leiden mutation results in a change of one of the inactivation sites of the FV molecule by APC to 506 arginine to glutamine, which abolishes the inactivation site. As a consequence, the active procoagulant factor Va remains in the circulation significantly longer. This leads to inherited thrombosis susceptibility. The heterozygous genotype confers a 5-10-fold increased risk of deep vein thrombosis, whereas the homozygous mutant genotype confers a 50-100-fold increased risk. The public health significance of the FV Leiden mutation is due to its high prevalence, with a Hungarian prevalence of 10% for the heterozygous condition. The FV Leiden mutation is the genetic cause of the APC resistance phenotype. The FV Leiden mutation increases the risk of first trimester habitual miscarriage by 2-fold and the risk of late habitual miscarriage by up to 7.8-fold.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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