呼和浩特地区新生儿脊髓性肌萎缩症、杜氏肌营养不良致病基因携带者筛查

Screening of neonatal spinal muscular atrophy and Duchenne muscular dystrophy pathogenic gene carriers in Hohhot

目的调查呼和浩特地区新生儿脊髓性肌萎缩症、杜氏肌营养不良致病基因携带情况。方法选用简单随机抽样法,对设计总体中的每个单位进行编号,使用随机数表法随机选取2021年全年呼和浩特地区新生儿筛查中心的3233例新生儿,纳入携带者筛查研究,收集新生儿足底干血滤纸片提取DNA,应用多重PCR联合二代测序技术对相关疾病致病基因进行检测,并计算各致病基因的携带率。结果3233例新生儿,检出携带脊髓性肌萎缩症致病基因37例,携带率为1.14%;检出携带杜氏肌营养不良致病基因5例,携带率为0.15%。结论呼和浩特地区新生儿中脊髓性肌萎缩症、杜氏肌营养不良致病基因携带较高。

Objective To investigate the pathogenic genes of spinal muscular atrophy and Duchenne muscular dystrophy 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 random 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.