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Published in: Journal of Assisted Reproduction and Genetics 6/2012

01-06-2012 | Genetics

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

Authors: Norbert Gleicher, Andrea Weghofer, Ann Kim, David H. Barad

Published in: Journal of Assisted Reproduction and Genetics | Issue 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.
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Metadata
Title
Comparison of ovarian FMR1 genotypes and sub-genotypes in oocyte donors and infertile women
Authors
Norbert Gleicher
Andrea Weghofer
Ann Kim
David H. Barad
Publication date
01-06-2012
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 6/2012
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-012-9745-7

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