Genetic significance of skewed X-chromosome inactivation in premature ovarian failure

American Journal of Medical Genetics. Part a
K SatoKunihiro Okamura

Abstract

To determine the relationship between premature ovarian failure (POF) and skewed X-chromosome inactivation (XCI), karyotype, and XCI status in 43 patients with POF (group I) and 43 age-matched control women with regular menstrual cycles (group II) were evaluated. Evaluation of XCI status was based on the CAG triplet repeat polymorphism assay in the androgen receptor gene after sodium bisulfite treatment of DNA samples, and XCI patterns were classified as random (XCI < 70% skewing) or skewed (> or =70%). Furthermore, skewed XCI was classified under three different thresholds (> or =70, > or =80, or > or =90%). Karyotyping by G-banding and fluorescence in situ hybridization (FISH) on peripheral blood lymphocytes showed that one patient in group I had a deletion of Xq22, and another was 47,XXX. The frequency of low-level 45,X/46,XX mosaicism was nearly equal in both groups. In women without any X-chromosomal aberrations, the incidence of skewed XCI in group I was significantly higher than in group II on all threshold levels. Furthermore, extremely skewed XCI (> or =90%) was observed only in group I. These results indicate that POF may be caused by some underlying genetic disorders, which may induce skewed XCI.

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Citations

Nov 23, 2006·Human Genetics·Elif UzTayfun Ozcelik
Mar 19, 2013·Journal of Assisted Reproduction and Genetics·Nigyar N ShamilovaGennady T Sukhikh
Dec 22, 2007·Clinical Reviews in Allergy & Immunology·Tayfun Ozcelik
Sep 12, 2006·Visual Neuroscience·Gerald H Jacobs, Gary A Williams
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May 2, 2006·Fertility and Sterility·Jennie KlineDorothy Warburton
Mar 9, 2010·Reproductive Biomedicine Online·Jennifer L KingBradley J Van Voorhis
Aug 4, 2009·American Journal of Human Genetics·Dorothy WarburtonStephen Brown
Oct 23, 2014·Thyroid : Official Journal of the American Thyroid Association·Naoko IshidoYoshinori Iwatani
Jul 15, 2015·Clinical and Experimental Reproductive Medicine·Sang Ho Yoon, Young Min Choi
May 13, 2006·American Journal of Medical Genetics. Part a·Silvia BioneDaniela Toniolo
Jan 27, 2010·American Journal of Medical Genetics. Part a·Marian A SpathHelger G Yntema
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Apr 14, 2007·American Journal of Medical Genetics. Part a·Karla L BretherickWendy P Robinson
Feb 23, 2010·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Danhua PuJiayin Liu

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