X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion.
Recurrent spontaneous abortion (RSA) defines as two or more consecutive losses at < or = 20 weeks of gestation and affects an estimated 1 of every 100 couples wishing to have children. However, it remains a poorly understood phenomenon. Recent reports observed a significant association between highly skewed X chromosome and RSA, supporting that X chromosome inactivation might be an important and previously unknown cause of RSA. X-inactivation pattern, using polymeric X-linked women with idiopathic RSA and 80 control subjects with a single successful pregnancy and no history of spontaneous abortion. The ratio of heterozygotes was 68.2% (45/66) in women with RSA and 67.5% (54/80) in control group. Among 45 informative RSA cases, only 1 (2.2%) woman showed extreme skewed X inactivation (> or = 90%) and 4 (8.9%) had mild skewed inactivation (> or = 85%). In 54 heterozygous control subjects, 5 (9.3%) women showed extreme skewed X inactivation and 7 (13.0%) had mild one. The frequency of skewed X inactivation between RSA patients and control group was not significantly different (p>0.05). This finding suggests that skewed x chromosome be not associated with unexplained RSA patients.
Kim
Jin-Woo
JW
Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Park
So-Yeon
SY
Kim
Young-Mi
YM
Kim
Jin-Mee
JM
Han
Jung-Yeol
JY
Ryu
Hyun-Mee
HM
D000026:Abortion, Habitual / Q000235:genetics*; D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D019175:DNA Methylation; D004303:Dosage Compensation, Genetic; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007723:Korea; D008214:Lymphocytes; D011247:Pregnancy