Format

Send to

Choose Destination
BMC Med Genet. 2019 May 16;20(1):81. doi: 10.1186/s12881-019-0805-z.

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

Author information

1
Department of Central Laboratory, Peking University First Hospital, Beijing, 100034, China.
2
Beijing Huanuo Aomei Gene Biotech Co. Ltd., Beijing, 100070, China.
3
Department of Obstetrics & Gynecology, Beijing Obstetrics and Gynecology Hospital, Beijing, 100006, China.
4
Department of Obstetrics & Gynecology, Beijing Friendship Hospital, Capital Medical University, Beijing, 100050, China.
5
Department of Obstetrics & Gynecology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
6
Department of Obstetrics & Gynecology, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
7
Department of Obstetrics & Gynecology, Beijing Jishuitan Hospital, Beijing, 100035, China.
8
Department of Obstetrics & Gynecology, Beijing Chaoyang District Maternal and Child Health Care Hospital, Beijing, 100022, China.
9
Department of Obstetrics & Gynecology, Civil Aviation General Hospital, Beijing, 100025, China.
10
Department of Obstetrics & Gynecology, People's Hospital of Beijing Daxing District, Beijing, 102600, China.
11
Department of Obstetrics & Gynecology, Beijing Changping Hospital, Beijing, 102200, China.
12
Department of Obstetrics & Gynecology, Xinjiang Urumqi City Maternal and Child Care Health Hospital, Urumqi, 830001, China.
13
Department of Obstetrics &Gynecology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, China.
14
Department of Obstetrics &Gynecology, Peking University First Hospital, Beijing, 100034, China.
15
Department of Statistics, Peking University First Hospital, Beijing, 100034, China.
16
Department of Central Laboratory, Peking University First Hospital, Beijing, 100034, China. qiyu0724@163.com.
17
Department of Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China. modscn@126.com.

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.

KEYWORDS:

China; FMR1 gene; Fragile X syndrome; Pre-mutation; abortion

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center