Evidence map›Paper›PMID 41840477›Full record

ArticleBMC genomic data2026

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan.

Liping Chen, Xuemei Zhang, Yi Song, Li Chen, Yongjun He, Yang Li, Yan Cai, Qi Shi

Abstract read
In one paragraph

Article in BMC genomic data, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Liping Chen *Genetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Xuemei Zhang *Genetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Yi SongGenetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Li ChenGenetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Yongjun HeGenetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Yang LiGenetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Yan CaiGenetic and Prenatal Diagnosis Center, The Affiliated Hospital of North Sichuan Medical College, Nanchong City, China.
Qi ShiSchool of Clinical Medicine, North Sichuan Medical College, Nanchong City, China. Adastone1975@163.com.

Funding

Nanchong Municipal Applied Technology Research and Development Fund 20YFZJ0099
6 · The paper itself

Abstract

objectiveTo determine CGG repeat numbers in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene among 1,146 women of childbearing age in Northeast Sichuan, China, and to describe regional carrier prevalence.

methodsA total of 1146 cases of women of childbearing age, voluntarily participating in FMR1 gene detection, were enrolled in this study from April 2021 to January 2024 in our outpatient clinic for regular prenatal check-ups, genetic counseling, and medical treatment for adverse pregnancy history. A triple-primer PCR approach was utilized to determine the CGG repeat numbers in the FMR1 gene among normal subjects, followed by a further examination of the CGG repeat numbers in fetuses from premutation female carriers.

resultIn a cohort of 1,146 women, two individuals had premutation alleles (57 and 97 repeat sizes), corresponding to a carrier frequency of 0.17% (2/1,146). Eight individuals had intermediate (gray zone) alleles (repeat sizes 45–54), resulting in a carrier frequency of 0.70%. The combined frequency of premutation and intermediate (gray zone) alleles was 0.87% (10/1,146). No full mutation alleles were identified.

conclusionThis cross-sectional study provides baseline data on the regional distribution of the FMR1 CGG repeat among women of childbearing age in Northeast Sichuan. The carrier rate of the premutation was 0.17%, and the frequency of intermediate alleles was 0.70%. These numbers represent regional prevalence only. Therefore, larger multicentre studies will be necessary to better characterize the distribution of carriers among Chinese populations. (Clinical trial number: Not applicable)

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeTrinucleotide RepeatsAdultAllelesChinaCross-Sectional StudiesFemaleGene FrequencyHumansMutationPregnancyTrinucleotide Repeat ExpansionYoung AdultFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1CGG repeat numbersFMR1 geneFXSWomen of childbearing age

Identifiers

PMID41840477
PMCPMC13104335

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