[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].

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.

KEYWORDS: {{ getKeywords(articleDetailText.words) }}