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Mol. Hum. Reprod. Advance Access published online on January 10, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gah255
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received October 24, 2005
Accepted December 4, 2005

Article

Variations of the Amnionless gene in recurrent spontaneous abortions

Milja Kaare 1 *, Jodie N. Painter 1, Veli-Matti Ulander 2, Risto Kaaja 2, and Kristiina Aittomäki 3

1 Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
2 Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
3 Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland; Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

* To whom correspondence should be addressed.
Milja Kaare, E-mail: milja.kaare{at}helsinki.fi


  Abstract

Recurrent spontaneous abortions (RSA) are estimated to affect 0.5-1% of couples trying to have a child. The causes of RSA are unknown in the majority of cases. This study aimed to determine whether homozygous mutations in the AMN gene in a fetus cause spontaneous abortions in humans, as they are known to cause spontaneous abortions in mice. The study was conducted by screening 40 couples and 5 women with three or more unexplained spontaneous abortions for heterozygous mutations in the AMN gene using denaturing high-performance liquid chromatography. Altogether, 3 exonic and 11 intronic sequence variations were found. There were no significant differences in the frequencies of the variations between the patients and a control group. One of the exonic variations was non-synonymous, and three of the variations may affect gene splicing. None of the putative phenotype-affecting variations were found in both partners in any couple. These results indicate that RSA in the couples studied cannot be explained by homozygous AMN mutations in the fetus. However, two couples had different, potentially deleterious variations in both partners. If these variations have a phenotypic effect, the RSA experienced by these couples may be caused by mutations in the AMN gene. In addition, birthplaces of the patients’ ancestors revealed some clustering, suggesting that some patients may carry a founder mutation in another gene which may contribute to RSA.

Keywords: Amnionless/DHPLC/miscarriage/polymorphism/recurrent spontaneous abortion.
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