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

被引:7
|
作者
Gleicher, Norbert [1 ,2 ]
Weghofer, Andrea [1 ,3 ]
Kim, Ann [1 ]
Barad, David H. [1 ,2 ]
机构
[1] CHR, New York, NY 10021 USA
[2] Fdn Reprod Med, New York, NY USA
[3] Univ Vienna, Sch Med, Dept Endocrinol & Reprod Med, Vienna, Austria
关键词
Fragile X mental retardation 1 gene (FMR1); Ovarian reserve; Genotypes; Sub-genotypes; Oocyte donors; Infertility; GENE;
D O I
10.1007/s10815-012-9745-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. 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). 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. These findings validate recently newly described ovarian genotypes and sub-genotypes, reaffirming their relevance to female fertility/infertility.
引用
收藏
页码:529 / 532
页数:4
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