A1 Refereed original research article in a scientific journal
Sex chromosome characteristics and recurrent miscarriage
Authors: Kaare M, Painter JN, Ulander VM, Kaaja R, Aittomäki K
Publication year: 2008
Journal: Fertility and Sterility
Journal name in source: Fertility and sterility
Journal acronym: Fertil Steril
Volume: 90
Issue: 6
First page : 2328
Last page: 33
Number of pages: 6
ISSN: 0015-0282
eISSN: 1556-5653
DOI: https://doi.org/10.1016/j.fertnstert.2007.10.048
Abstract
To investigate whether skewed X chromosome inactivation (XCI) and Y chromosome microdeletions are associated with recurrent miscarrige (RM).\nA retrospective study.\nUniversity hospital and genetic laboratory.\nAltogether, 46 women with a history of RM, defined as at least three miscarriages, and a control group of 95 women with no history of miscarriage were included in the XCI study. In the Y chromosome microdeletion study 40 male partners of women with RM were studied.\nBlood samples for DNA extraction.\nX chromosome inactivation patterns in the females were analyzed using a methylation-sensitive assay. The DNA from males was tested for Y chromosome microdeletions by analyzing 37 sequence tagged sites.\nMildly skewed XCI (>85% inactivation of one allele) was detected in 4 of 43 (9.3%) patients, and 9 of 81 (11.1%) controls. Among these women, extremely skewed XCI (>90% inactivation of one allele) was detected in 2 of 43 (4.7%) patients, and 4 of 81 (4.9%) controls. No statistical differences could be shown between the groups. No microdeletions were found in the male partners.\nThe frequency of both extremely and mildly skewed XCI was similar in patients and control women. Y chromosome microdeletions were not found in spouses of patients. Based on these results we conclude that skewed X inactivation and Y chromosome microdeletions are not associated with RM in our study couples.\nOBJECTIVE\nDESIGN\nSETTING\nPATIENT(S)\nINTERVENTION(S)\nMAIN OUTCOME MEASURE(S)\nRESULTS\nCONCLUSION(S)
To investigate whether skewed X chromosome inactivation (XCI) and Y chromosome microdeletions are associated with recurrent miscarrige (RM).\nA retrospective study.\nUniversity hospital and genetic laboratory.\nAltogether, 46 women with a history of RM, defined as at least three miscarriages, and a control group of 95 women with no history of miscarriage were included in the XCI study. In the Y chromosome microdeletion study 40 male partners of women with RM were studied.\nBlood samples for DNA extraction.\nX chromosome inactivation patterns in the females were analyzed using a methylation-sensitive assay. The DNA from males was tested for Y chromosome microdeletions by analyzing 37 sequence tagged sites.\nMildly skewed XCI (>85% inactivation of one allele) was detected in 4 of 43 (9.3%) patients, and 9 of 81 (11.1%) controls. Among these women, extremely skewed XCI (>90% inactivation of one allele) was detected in 2 of 43 (4.7%) patients, and 4 of 81 (4.9%) controls. No statistical differences could be shown between the groups. No microdeletions were found in the male partners.\nThe frequency of both extremely and mildly skewed XCI was similar in patients and control women. Y chromosome microdeletions were not found in spouses of patients. Based on these results we conclude that skewed X inactivation and Y chromosome microdeletions are not associated with RM in our study couples.\nOBJECTIVE\nDESIGN\nSETTING\nPATIENT(S)\nINTERVENTION(S)\nMAIN OUTCOME MEASURE(S)\nRESULTS\nCONCLUSION(S)
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