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

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.

SUBMITTER: Ma Y

PROVIDER: S-EPMC6521407 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Ma Yinan Y Wei Xing X Pan Hong H Wang Songtao S Wang Xin X Liu Xiaowei X Zou Liying L Wang Xiaomei X Wang Xiaorong X Yang Hua H Wang Fengying F Wang Kefang K Sun Lifang L Qiao Xiaolin X Yang Yue Y Ma Xiuhua X Liu Dandan D Ding Guifeng G Ma Junqi J Yang Xiuli X Zhu Sainan S Qi Yu Y Yin Chenghong C

BMC medical genetics 20190516 1

<h4>Background</h4>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.<h4>Methods</h4>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 meas ...[more]

PMID: 31096929

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Project description:The presence of AGG interruptions in the CGG repeat locus of the fragile X mental retardation 1 (FMR1) gene decreases the instability of the allele during transmission from parent to child, and decreases the risk of expansion of a premutation allele to a full mutation allele (the predominant cause of fragile X syndrome) during maternal transmission.To strengthen recent findings on the utility of AGG interruptions in predicting instability or expansion to a full mutation of FMR1 CGG repeat alleles, we assessed the outcomes of 108 intermediate (also named gray zone) and 710 premutation alleles that were transmitted from parent to child, and collected from four international clinical sites. We have used the results to revise our initial model that predicted the risk of a maternal premutation allele expanding to a full mutation during transmission and to test the effect of AGG interruptions on the magnitude of expanded allele instability of intermediate or premutation alleles that did not expand to a full mutation.Consistent with previous studies, the number of AGG triplets that interrupts the CGG repeat locus was found to influence the risk of allele instability, including expansion to a full mutation. The total length of the CGG repeat allele remains the best predictor of instability or expansion to a full mutation, but the number of AGG interruptions and, to a much lesser degree, maternal age are also factors when considering the risk of transmission of the premutation allele to a full mutation.Our findings demonstrate that a model with total CGG length, number of AGG interruptions, and maternal age is recommended for calculating the risk of expansion to a full mutation during maternal transmission. Taken together, the results of this study provide relevant information for the genetic counseling of female premutation carriers, and improve the current predictive models which calculate risk of expansion to a full mutation using only total CGG repeat length.

Dataset Information

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

Publications

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

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