Cargando…
The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age
BACKGROUND: The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China. METHODS: A total of 11,891 pre-conceptional or pregnant women, including 5037...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521407/ https://www.ncbi.nlm.nih.gov/pubmed/31096929 http://dx.doi.org/10.1186/s12881-019-0805-z |
| _version_ | 1783418951025295360 |
|---|---|
| author | Ma, Yinan Wei, Xing Pan, Hong Wang, Songtao Wang, Xin Liu, Xiaowei Zou, Liying Wang, Xiaomei Wang, Xiaorong Yang, Hua Wang, Fengying Wang, Kefang Sun, Lifang Qiao, Xiaolin Yang, Yue Ma, Xiuhua Liu, Dandan Ding, Guifeng Ma, Junqi Yang, Xiuli Zhu, Sainan Qi, Yu Yin, Chenghong |
| author_facet | Ma, Yinan Wei, Xing Pan, Hong Wang, Songtao Wang, Xin Liu, Xiaowei Zou, Liying Wang, Xiaomei Wang, Xiaorong Yang, Hua Wang, Fengying Wang, Kefang Sun, Lifang Qiao, Xiaolin Yang, Yue Ma, Xiuhua Liu, Dandan Ding, Guifeng Ma, Junqi Yang, Xiuli Zhu, Sainan Qi, Yu Yin, Chenghong |
| author_sort | Ma, Yinan |
| collection | PubMed |
| description | BACKGROUND: The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China. METHODS: A total of 11,891 pre-conceptional or pregnant women, including 5037 pregnant women and 7357 women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos, were recruited. The number of CGG repeats in FMR1 was measured by the TRP-PCR method. We also offered genetic counseling and prenatal diagnosis to the women carrying pre-mutation or full mutation alleles. RESULTS: The prevalence of pre-mutation in reproductive women in northern China was 1/410, higher than that in southern China and Korea but lower than that in western countries. We also found that the prevalence of pre-mutation was relatively high (1/320) in women with abortion history. CONCLUSION: Screening for CGG repeat expansion mutation in FMR1 should be recommended to the women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos. |
| format | Online Article Text |
| id | pubmed-6521407 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-65214072019-05-23 The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age Ma, Yinan Wei, Xing Pan, Hong Wang, Songtao Wang, Xin Liu, Xiaowei Zou, Liying Wang, Xiaomei Wang, Xiaorong Yang, Hua Wang, Fengying Wang, Kefang Sun, Lifang Qiao, Xiaolin Yang, Yue Ma, Xiuhua Liu, Dandan Ding, Guifeng Ma, Junqi Yang, Xiuli Zhu, Sainan Qi, Yu Yin, Chenghong BMC Med Genet Research Article BACKGROUND: The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China. METHODS: A total of 11,891 pre-conceptional or pregnant women, including 5037 pregnant women and 7357 women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos, were recruited. The number of CGG repeats in FMR1 was measured by the TRP-PCR method. We also offered genetic counseling and prenatal diagnosis to the women carrying pre-mutation or full mutation alleles. RESULTS: The prevalence of pre-mutation in reproductive women in northern China was 1/410, higher than that in southern China and Korea but lower than that in western countries. We also found that the prevalence of pre-mutation was relatively high (1/320) in women with abortion history. CONCLUSION: Screening for CGG repeat expansion mutation in FMR1 should be recommended to the women with the history of spontaneous abortion or induced abortion due to delayed growth of the embryos. BioMed Central 2019-05-16 /pmc/articles/PMC6521407/ /pubmed/31096929 http://dx.doi.org/10.1186/s12881-019-0805-z Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
| spellingShingle | Research Article Ma, Yinan Wei, Xing Pan, Hong Wang, Songtao Wang, Xin Liu, Xiaowei Zou, Liying Wang, Xiaomei Wang, Xiaorong Yang, Hua Wang, Fengying Wang, Kefang Sun, Lifang Qiao, Xiaolin Yang, Yue Ma, Xiuhua Liu, Dandan Ding, Guifeng Ma, Junqi Yang, Xiuli Zhu, Sainan Qi, Yu Yin, Chenghong The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title | The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title_full | The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title_fullStr | The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title_full_unstemmed | The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title_short | The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age |
| title_sort | prevalence of cgg repeat expansion mutation in fmr1 gene in the northern chinese women of reproductive age |
| topic | Research Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6521407/ https://www.ncbi.nlm.nih.gov/pubmed/31096929 http://dx.doi.org/10.1186/s12881-019-0805-z |
| work_keys_str_mv | AT mayinan theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT weixing theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT panhong theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangsongtao theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxin theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT liuxiaowei theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT zouliying theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxiaomei theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxiaorong theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yanghua theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangfengying theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangkefang theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT sunlifang theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT qiaoxiaolin theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yangyue theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT maxiuhua theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT liudandan theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT dingguifeng theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT majunqi theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yangxiuli theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT zhusainan theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT qiyu theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yinchenghong theprevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT mayinan prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT weixing prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT panhong prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangsongtao prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxin prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT liuxiaowei prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT zouliying prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxiaomei prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangxiaorong prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yanghua prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangfengying prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT wangkefang prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT sunlifang prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT qiaoxiaolin prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yangyue prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT maxiuhua prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT liudandan prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT dingguifeng prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT majunqi prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yangxiuli prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT zhusainan prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT qiyu prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage AT yinchenghong prevalenceofcggrepeatexpansionmutationinfmr1geneinthenorthernchinesewomenofreproductiveage |