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• W3039088775 abstract "Objective: To investigate the carrier frequency of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao. Methods: In this cross-sectional study, using computer random sampling, 5 020 neonates from the neonatal screening center in Qingdao area from June 2016 to December 2018 were selected, and 5 012 of them were included in the carrier screening study.DNA was extracted from dried blood stain specimens used in the screening of newborns. Multiplex PCR combined with next generation sequencing were used for gene detection of MMACHC gene, MUT gene and ATP7B gene. The carrying rate of hotspots of each gene were calculated, and binomial distribution method was used to calculate 95% confidence interval of pathogenic gene carrying rate. Results: A total of 5 012 neonates completed the screening for carriers of disease-causing genes, of which 5 006 neonates completed the screening of two diseases and the remaining 6 neonates completed the screening of Wilson disease only.For ATP7B gene, the carrier frequency of the 12 hot spot mutations was 1.46% (73/5 012),and the 95% confidence interval was 1.16%-1.83%. For MMACHC gene and MUT gene, carrier frequency of 18 hot spot mutations was 2.50% (125/5 006) , and the 95% confidence interval was 2.10%-2.97%, among which cblC type accounted for 87.2% and the MUT pathogenic gene accounted for 12.8%. Conclusion: The carrier frequency of methylmalonic acidemia and Wilson's disease are both high in the neonatal population in Qingdao.目的： 调查青岛地区新生儿中甲基丙二酸血症和Wilson病致病基因的携带情况。 方法： 采用横断面研究，计算机随机抽取2016年6月至2018年12月青岛地区新生儿筛查中心的5 020名新生儿，其中5 012名新生儿纳入携带者筛查研究，收集新生儿筛查足跟血滤纸干血斑提取DNA，多重PCR联合二代测序技术对MMACHC基因、MUT基因和ATP7B基因进行检测，通过直接计数计算各基因热点位点的携带率，二项分布法计算致病基因携带率95%置信区间。 结果： 共5 012名新生儿完成致病基因携带者筛查,其中5 006名完成两病筛查，另6名仅完成Wilson病筛查。针对ATP7B基因，筛查的12个热点变异携带率为1.46%（73/5 012），95%置信区间为1.16%~1.83%；针对MMACHC基因和MUT基因，筛查的18个热点变异携带率为2.50%（125/5 006），95%置信区间为2.10%~2.97%，其中cblC型占87.2%，MUT致病基因占12.8%。 结论： 青岛地区新生儿中甲基丙二酸血症和Wilson病的致病基因携带率高。." @default.
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• W3039088775 date "2020-07-02" @default.
• W3039088775 modified "2023-09-27" @default.
• W3039088775 title "[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao]." @default.
• W3039088775 doi "https://doi.org/10.3760/cma.j.cn112140-20191208-00786" @default.
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