| Title | X chromosome defects as an etiology of recurrent spontaneous abortion. | | Author(s) | Lanasa MC, Hogge WA | | Institution | Biochemistry and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA. | | Source | Semin Reprod Med 2000; 18(1):97-103. | | MeSH | Abortion, Habitual
Chromosome Aberrations
Dosage Compensation, Genetic
Female
Humans
Linkage (Genetics)
Male
Pregnancy
X Chromosome
| | Abstract | Recurrent spontaneous abortion is a significant problem in women's health, yet it remains a poorly understood phenomenon. Many cases of recurrent spontaneous abortion defy diagnosis, and we predict that a subset of these unexplained cases are caused by previously unknown, recessively inherited genetic causes. Here, we provide background on known genetic factors that contribute to spontaneous abortion and describe a novel X chromosome-based genetic mechanism that may be an important cause of recurrent spontaneous abortion. Recessively inherited defects on the human X chromosome would cause no symptoms in carrier females but would be lethal in utero to male conceptions that receive the defective X. Through investigation of the basic biology of the X chromosome, we propose that the female carriers of such traits can be identified through the molecular finding of skewed X chromosome inactivation. Furthermore, we have observed an association between skewed X chromosome inactivation and recurrent pregnancy loss, supporting the hypothesis that X chromosome defects may be an important, previously unknown cause of recurrent pregnancy loss. | | Language | eng | | Pub Type(s) | Journal Article
Review
| | PubMed ID | 11299525 |
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