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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss.

OBJECTIVE: To determine whether preferential X-chromosome inactivation (P-XCI) relates to idiopathic recurrent pregnancy loss. DESIGN: A retrospective study. SETTING: Infertility clinics and laboratory. PATIENT(S): Women with idiopathic recurrent pregnancy loss (group I), women who had given birth to children but with no history of spontaneous abortion (group II), and women without a history of pregnancy (group III). INTERVENTION(S): DNA samples from the heterozygotes for the (CAG)n polymorphism within the androgen receptor gene were modified with sodium bisulfite, PCR-amplified with primer pairs for methylated androgen receptor alleles (M-PCR) and unmethylated alleles (U-PCR), and subjected to electrophoresis. MAIN OUTCOME MEASURE(S): Band peak patterns and peak area sizes. RESULT(S): In group I, 7 (16.7%) of 42 heterozygotes exhibited P-XCI; four possessed single-peak patterns in the M-PCR and U-PCR products, and three had two-peak patterns in which the peak sizes differed considerably. In group II, 2 (5.6%) of 36 heterozygotes exhibited P-XCI as determined by the two-peak patterns. In group III, none of the 47 heterozygotes exhibited P-XCI. CONCLUSION(S): The incidence of P-XCI was statistically higher in group I than in the other groups. As P-XCI characterized by single-peak patterns was observed only in group I, such patterns, which may result from undiscovered cytogenetic or molecular abnormalities of the X-chromosome, likely correlate with pregnancy loss.[1]


  1. Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss. Uehara, S., Hashiyada, M., Sato, K., Sato, Y., Fujimori, K., Okamura, K. Fertil. Steril. (2001) [Pubmed]
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