Skewed X-Chromosome Inactivation as a Possible Marker of X-Linked CNV in Women with Pregnancy Loss.

Autor:	Fonova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Tolmacheva EN; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Kashevarova AA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Sazhenova EA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Nikitina TV; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Lopatkina ME; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Vasilyeva OY; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Zarubin AА; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Aleksandrova TN; Department of Obstetrics and Gynecology, Siberian State Medical University, Tomsk, Russian Federation., Yuriev SY; Department of Obstetrics and Gynecology, Siberian State Medical University, Tomsk, Russian Federation., Skryabin NA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Stepanov VA; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation., Lebedev IN; Research Institute of Medical Genetics, Tomsk National Research Medical Center, Tomsk, Russian Federation.
Jazyk:	angličtina
Zdroj:	Cytogenetic and genome research [Cytogenet Genome Res] 2022; Vol. 162 (3), pp. 97-108. Date of Electronic Publication: 2022 May 30.
DOI:	10.1159/000524342
Abstrakt:	Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI was assayed using the classical method based on the amplification of highly polymorphic exon 1 of the androgen receptor (AR) gene. The XCI status was analysed in 313 women with pregnancy loss and in 87 spontaneously aborted embryos with 46,XX karyotype, as well as in control groups of 135 women without pregnancy loss and 64 embryos with 46,XX karyotype from induced abortions in women who terminated a normal pregnancy. The frequency of sXCI differed significantly between women with miscarriages and women without pregnancy losses (6.3% and 2.2%, respectively; p = 0.019). To exclude primary causes of sXCI, sequencing of the XIST and XACT genes was performed. The XIST and XACT gene sequencing revealed no known pathogenic variants that could lead to sXCI. Molecular karyotyping was performed using aCGH, followed by verification of X-linked CNVs by RT-PCR and MLPA. Microdeletions at Xp11.23 and Xq24 as well as gains of Xq28 were detected in women with sXCI and pregnancy loss. (© 2022 S. Karger AG, Basel.)
Databáze:	MEDLINE
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