Association of extremely skewed X-chromosome inactivation with Taiwanese women presenting with recurrent pregnancy loss.
X-chromosome inactivation (XCI) is a phenomenon that occurs in female mammals. Typically, maternally and paternally-derived X chromosomes are inactivated at approximately the same frequency. If preferential inactivation occurs, the person is considered to have skewed XCI. Skewed XCI has been reported to occur more frequently in women who experience recurrent pregnancy loss (RPL). In this study, we sought to investigate if there is an association between skewed XCI and unexplained RPL in Taiwanese women. A total of 194 women who had experienced unexplained RPL were recruited into the study. Human androgen receptor or DXS6673E and DX15-134 loci were used in the XCI assay. The results of our study suggested that a cut-off point less than 90% may not be justified for skewed XCI. Only extremely skewed (more than 95%) XCI is associated with RPL. Extremely skewed XCI occurs in a subset of Taiwanese women with RPL.
Kuo
Pao-Lin
PL
Department of Obstetrics and Gynecology, National Cheng Kung University College of Medicine, Tainan, Taiwan.
Huang
Soon-Cen
SC
Chang
Ling-Wei
LW
Lin
Chien-Hung
CH
Tsai
Wen-Hui
WH
Teng
Yen-Ni
YN
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D011247:Pregnancy; D049951:X Chromosome Inactivation