Objective To investigate the pathogenic genes of spinal muscular atrophy and Duchenne muscular dys-trophy in newborns in Hohhot.Methods The simple random sampling method was used to number each unit in the design population,and 3233 newborns in the neonatal screening center of Hohhot in 2021 were randomly selected by using the ran-dom number table method to be included in the carrier screening study.DNA was extracted from dry plantar blood filter paper of newborns,and the disease-causing genes of related diseases were detected by multi-PCR combined with second-generation sequencing technology,and the carrying rate of each disease-causing gene was calculated.Results Among 3233 newborns,37 were found to carry the gene of spinal muscular atrophy(1.14％).Duchenne muscular dystrophy gene was detected in 5 cases,and the carrying rate was 0.15％.Conclusion The genes of spinal muscular atrophy and Duchenne muscular dystrophy were higher in newborns in Hohhot.
spinal muscular atrophyDuchenne muscular dystrophyscreening of genesneonatal carrier screening
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