![]() Some authors reported that just a small number of the repeats (26–34 CGG) are actually normal and have normal FMRP expression and that the “high-normal” (35–54 CGG) and “low-normal” (< 26 CGG) repeat alleles have decreased levels of protein expression and are associated with increased risks of DOR and POI, polycystic ovarian syndrome and therefore infertility. The number of repeats below 55 CGG is defined as normal length (associated with normal gene expression) however, recent studies have stirred up the discussion as to whether all these repeats are really normal. Moreover, the premutation allele is unstable and can expand to a full mutation in subsequent generations. The repeat numbers between 55 and 200 CGG are defined as premutation and can cause premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). The region containing more than 200 CGG repeats associated with abnormal methylation and is defined as a full mutation and causes fragile X syndrome. The FMR1 gene is located on the X chromosome and contains trinucleotide (CGG) repeats in the 5′-untranslated region, which regulates the expression of FMRP. The FMR1 gene encodes the protein FMRP (fragile X mental retardation protein), which plays an important role in brain development and in the regulation of ovarian function. ovulatory disorders, tubal and uterine pathologies, endocrine disorders, etc.) as well as male factors or both of them, but the etiology of infertility is still an open issue – approximately 20–30% of pairs have idiopathic infertility. Infertility is a dynamic disorder and can be caused by a variety of female (e.g. Infertility is a global problem and undoubtedly not only implicates health problems, but also has negative social and psychological consequences. However, to address the controversies related to the role of FMR1 genes in the development of diminished ovarian reserve, further studies on the subject are required. Conclusions: In our study, the FMR1 gene high-normal alleles were associated with secondary infertility. In addition, the analysis of low-normal allele and genotype frequencies did not present a difference between primary, secondary infertility and the control group (p > 0.05). fragile X syndrome, premature ovarian failure, etc. The FMR1 gene contains CGG repeat variation and the expansion of the repeats is associated with various phenotypes e.g. Introduction: The FMR1 gene plays an important role in brain development and in the regulation of ovarian function.
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