绵阳地区育龄女性FMR1和SMN1基因与耳聋相关基因筛查情况分析

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中图分类号：R715.5，R394 文献标志码：A DOI：10.11958/20251484

Abstract：ObjectiveToinvestigatethecombinedscreningresultstheirclinicalsignificanceFragileXMental Retardation1（FMRl）gene，Survival Motor Neuron1（SMN1） genehearing loss-related genes in region Sichuan province.MethodsAcross-sectional study was conducted with1OOO women reproductive age who sought prenatal counseling.The CGG repeat number the FMRI gene was detected using the AmplideX technique，while SMN1 gene copynumber variations were detected byreal-time fluorescencequantitative PCR.The genotypes alele frequencies15 lociin hearing lossrelated genes were determinedby melting curve analysis.ResultsIn the 1000 （204号 samples，27different CGGrepeat numbersFMR1gene were detected，withtherepeatrange from26to 62.No full mutationcarriers were found，but2cases （0.2 % ） FMRl 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 the SMN1 gene. Inthe hearing loss-related gene screening，43 carriers hearing loss genes（ 4.30% ）were identified. There were no significant diffrences inthe distributionCGG repeat numbers，SMN1copy numbers hearing lossrelated genecarrier between the normal pregnancies the miscarriages（ P>0.05 ）.ConclusionThe study provides apreliminary understing thedistributionFMR1，SMN1hearing loss-relatedgenesinthe region.Itcanserveasa basis for prenatal diagnosis the prevention birth defects in high-risk fetuses.

Keywords：genetic counseling;miscarriage; FMRl gene; SMNl gene; deafness genes

脆性X智力低下1号（fragileXmentalretardation1，FMR1）基因位于X染色体长臂，其编码的脆性X智力低下蛋白（fragileXmental retardationprotein，FMRP）在神经系统发育和突触可塑性中发挥关键作用[1]。（剩余9967字）