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Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages

Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case–control study, we determined the impact of CGG trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in 49 women with unexplained recurrent miscarriages. Case...

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Autores principales: Wang, Xin-hua, Song, Xiao-hua, Wang, Yan-lin, Diao, Xing-hua, Li, Tong, Li, Qing-chun, Zhang, Xiang-hui, Deng, Xiao-hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700269/
https://www.ncbi.nlm.nih.gov/pubmed/29054962
http://dx.doi.org/10.1042/BSR20170856
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author Wang, Xin-hua
Song, Xiao-hua
Wang, Yan-lin
Diao, Xing-hua
Li, Tong
Li, Qing-chun
Zhang, Xiang-hui
Deng, Xiao-hui
author_facet Wang, Xin-hua
Song, Xiao-hua
Wang, Yan-lin
Diao, Xing-hua
Li, Tong
Li, Qing-chun
Zhang, Xiang-hui
Deng, Xiao-hui
author_sort Wang, Xin-hua
collection PubMed
description Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case–control study, we determined the impact of CGG trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in 49 women with unexplained recurrent miscarriages. Case group consisted of women with two or more unexplained consecutive miscarriages. Blood samples were obtained and checked for the presence of expanded alleles of the FMR1 gene using PCR. Patients harboring the expanded allele, with a threshold set to 40 repeats, were further evaluated by sequencing. The number of abortions each woman had, was not associated with her respective CGG repeat number (P=0.255). The repeat sizes of CGG expansion in the FMR1 gene were significantly different in the two population groups (P=0.027). All the positive cases involved intermediate zone carriers. Hence, the CGG expanded allele of the FMR1 gene might be associated with unexplained multiple miscarriages; whether such an association is coincidental or causal can be confirmed by future studies using a larger patient cohort.
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spelling pubmed-57002692017-11-27 Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages Wang, Xin-hua Song, Xiao-hua Wang, Yan-lin Diao, Xing-hua Li, Tong Li, Qing-chun Zhang, Xiang-hui Deng, Xiao-hui Biosci Rep Research Articles Up to 50% of recurrent miscarriage cases in women occur without an underlying etiology. In the current prospective case–control study, we determined the impact of CGG trinucleotide expansions of the fragile-X mental retardation 1 (FMR1) gene in 49 women with unexplained recurrent miscarriages. Case group consisted of women with two or more unexplained consecutive miscarriages. Blood samples were obtained and checked for the presence of expanded alleles of the FMR1 gene using PCR. Patients harboring the expanded allele, with a threshold set to 40 repeats, were further evaluated by sequencing. The number of abortions each woman had, was not associated with her respective CGG repeat number (P=0.255). The repeat sizes of CGG expansion in the FMR1 gene were significantly different in the two population groups (P=0.027). All the positive cases involved intermediate zone carriers. Hence, the CGG expanded allele of the FMR1 gene might be associated with unexplained multiple miscarriages; whether such an association is coincidental or causal can be confirmed by future studies using a larger patient cohort. Portland Press Ltd. 2017-11-23 /pmc/articles/PMC5700269/ /pubmed/29054962 http://dx.doi.org/10.1042/BSR20170856 Text en © 2017 The Author(s). http://creativecommons.org/licenses/by/4.0/This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) .
spellingShingle Research Articles
Wang, Xin-hua
Song, Xiao-hua
Wang, Yan-lin
Diao, Xing-hua
Li, Tong
Li, Qing-chun
Zhang, Xiang-hui
Deng, Xiao-hui
Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title_full Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title_fullStr Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title_full_unstemmed Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title_short Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages
title_sort expanded alleles of the fmr1 gene are related to unexplained recurrent miscarriages
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5700269/
https://www.ncbi.nlm.nih.gov/pubmed/29054962
http://dx.doi.org/10.1042/BSR20170856
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