Erschienen in:
01.06.2012 | Genetics
Comparison of ovarian FMR1 genotypes and sub-genotypes in oocyte donors and infertile women
verfasst von:
Norbert Gleicher, Andrea Weghofer, Ann Kim, David H. Barad
Erschienen in:
Journal of Assisted Reproduction and Genetics
|
Ausgabe 6/2012
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Abstract
Purpose
We recently described ovarian genotypes and sub-genotypes of the FMR1 gene with distinctly associated ovarian aging patterns, which in infertile women follow a typical X-linked distribution pattern. Whether normally fertile women, however, also demonstrate the same distribution, is unknown.
Methods
We, therefore, investigated ovarian FMR1 genotype and sub-genotype distribution in 182 oocyte donor candidates in comparison to 339 infertile controls. As previously reported, genotype designation was made, based on a normal range of CGG
n = 26–34 (median 30), defining women as normal (norm), heterozygous (het) or homozygous (hom). Het and hom genotypes were further subdivided into sub-genotypes, based on whether abnormal alleles were above (high) or below normal range (low).
Results
Oocyte donors presented with 47.8% norm, 45.1% het and 7.1% hom genotypes, confirming a typical X-linked distribution pattern. They, however, still subtly differed from infertility patients, especially in het sub-genotypes.
Conclusion
These findings validate recently newly described ovarian genotypes and sub-genotypes, reaffirming their relevance to female fertility/infertility.