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Open Access 01-12-2019 | Research article

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

Authors: Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma, Dandan Liu, Guifeng Ding, Junqi Ma, Xiuli Yang, Sainan Zhu, Yu Qi, Chenghong Yin

Published in: BMC Medical Genetics | Issue 1/2019

Abstract

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.

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Title: The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age
Authors: Yinan Ma
Xing Wei
Hong Pan
Songtao Wang
Xin Wang
Xiaowei Liu
Liying Zou
Xiaomei Wang
Xiaorong Wang
Hua Yang
Fengying Wang
Kefang Wang
Lifang Sun
Xiaolin Qiao
Yue Yang
Xiuhua Ma
Dandan Liu
Guifeng Ding
Junqi Ma
Xiuli Yang
Sainan Zhu
Yu Qi
Chenghong Yin
Publication date: 01-12-2019
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-019-0805-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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