Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

POI-related X chromosome genes

The first group identified genes on the X chromosome. The most common gene mutation (4-10%) associated with POI is the FMR1 gene (FMRP Translational Regulator 1), formerly known as Fragile X Mental Retardation 1 gene, located at position Xq27.3, which is responsible for Fragile X syndrome, a form of X chromosome-linked mental retardation. The ≤ 45 CGG repeats are considered normal, while more than 200 trinucleotide repeats are considered a complete, full mutation, and result in Fragile X syndrome. In girls, symptoms are usually less severe because one of the two X chromosomes is inactivated during lyonization. An extension of CGG repeats between 45 and 200 in the 5'UTR region of the gene is called a premutation. Women carrying the premutation are ten times more at risk of developing POI disease.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány Idegen nyelvű

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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