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[Significance and case analysis of FMR1 mutation screening during early and middle pregnancy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Cao Qinying, Mu Weihong, Sun Donglan, Zhu Junzhen, Ge Jun, Peng Yuanyuan, Zhang Jing

Abstract excerpt

OBJECTIVE: To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions. METHODS: Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and...

Topics

DNA Copy Number Variations
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome
Genetic Counseling
Humans
Mutation
Pregnancy
Trinucleotide Repeat Expansion
Trinucleotide Repeats

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33974253
DOI: 10.3760/cma.j.cn511374-20200319-00181

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