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Comparison of ovarian FMR1 genotypes and sub-genotypes in oocyte donors and infertile women

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

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.

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References

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Funding

This work was supported by the Foundation for Reproductive Medicine and intramural grants from the Center for Human Reproduction.

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Authors and Affiliations

  1. The Center for Human Reproduction (CHR), 21 East 69th Street, New York, NY, 10021, USA

    Norbert Gleicher, Andrea Weghofer, Ann Kim & David H. Barad

  2. The Foundation for Reproductive Medicine, New York, NY, USA

    Norbert Gleicher & David H. Barad

  3. Department of Endocrinology and Reproductive Medicine, Vienna University School of Medicine, Vienna, Austria

    Andrea Weghofer

Authors
  1. Norbert Gleicher
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  2. Andrea Weghofer
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  3. Ann Kim
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  4. David H. Barad
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Corresponding author

Correspondence to Norbert Gleicher.

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Authors’ roles

N.G. and D.H.B. contributed equally to study design, study conduct and preparation of the manuscript, with N.G, being primarily responsible for writing the manuscript and D.H.B. being primarily responsible for data analysis. A.W. contributed to study design and A.K. contributed to data analysis. All authors reviewed and approved the final manuscript.

Capsule

Egg donor candidates were found to have a similar, but not identical, distribution of ovarian FMR1 genotypes and sub-genotypes, compatible with previously reported functions.

N.G. and D.H.B. are listed as co-inventors on a pending U.S. patent application, which claims diagnostic benefits in infertility from assessing FMR1 genotypes and sub-genotypes.

Here presented material was in part presented in abstract form at the 67th Annual Meeting of the American Society for Reproductive Medicine in Orlando, Florida, October 15–19, 2011.

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Gleicher, N., Weghofer, A., Kim, A. et al. Comparison of ovarian FMR1 genotypes and sub-genotypes in oocyte donors and infertile women. J Assist Reprod Genet 29, 529–532 (2012). https://doi.org/10.1007/s10815-012-9745-7

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  • DOI: https://doi.org/10.1007/s10815-012-9745-7

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