Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

F2 gene (Coagulation Factor II)

The second most common risk factor for inherited thrombophilia is a mutation in the F2 gene encoding prothrombin (Coagulation Factor II), the so-called prothrombin 20210A allele. The point mutation, which is a G>A substitution, is located in the 3' untranslated region of the prothrombin gene, close to the polyadenylation signal insertion site. As a result of the prothrombin 20210A allele, the mRNA transcribed from the gene will be more stable than the mRNA transcribed from the normal allele, resulting in more prothrombin protein being produced from it. This then gets out into the circulation and it is likely that the greater amount of circulating prothrombin leads to an increase in the susceptibility to mild thrombosis. The Hungarian prevalence of the prothrombin 20210A allele is 2.7%, as is the increase in risk of venous thromboembolism reported by this allele (2.7-fold). The risk - not the cause - of habitual miscarriage is well demonstrated by the fact that the increase in risk of this pathology reported by the prothrombin 20210A allele is only 2.7-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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