Analysis of screening results of FMR1,SMN1 and deafness-related genes in reproductive-age women in Mianyang area

WANG Dan; JIN Zhuoting; PAN Changqing; ZHENG Qianwen; YU Wenliang; DENG Yanmei; ZHANG Yong

doi:10.11958/20251484

Abstract：Objective To investigate the combined screening results and their clinical significance of Fragile X Mental Retardation 1(FMR1)gene,Survival Motor Neuron 1(SMN1)gene and hearing loss-related genes in Mianyang region of Sichuan province.Methods A cross-sectional study was conducted with 1 000 women of reproductive age who sought prenatal counseling.The CGG repeat number of the FMR1 gene was detected using the AmplideX technique,while SMN1 gene copy number variations were detected by real-time fluorescence quantitative PCR.The genotypes and allele frequencies of 15 loci in hearing loss-related genes were determined by melting curve analysis.Results In the 1 000 samples,27 different CGG repeat numbers of FMR1 gene were detected,with the repeat range from 26 to 62.No full mutation carriers were found,but 2 cases(0.2%)of FMR1 gene premutation were identified.Among the SMN1 gene copy numbers,981 cases(98.10%)had≥2 copies,while 19 cases(1.90%)were SMA carriers with only 1 copy of the SMN1 gene.In the hearing loss-related gene screening,43 carriers of hearing loss genes(4.30%)were identified.There were no significant differences in the distribution of CGG repeat numbers,SMN1 copy numbers and hearing loss-related gene carrier between the normal pregnancies and the miscarriages(P＞0.05).Conclusion The study provides a preliminary understanding of the distribution of FMR1,SMN1 and hearing loss-related genes in the Mianyang region.It can serve as a basis for prenatal diagnosis and the prevention of birth defects in high-risk fetuses.