Carrier screening for 4 inherited metabolic diseases in population of childbearing age from Henan Province
Aim:To evaluate the value of carrier screening for 4 inherited metabolic diseases(hyperphenylalaninemia,Wilson disease,methylmalonic acidemia and oculocutaneous albinism)among population of childbearing age in Henan Prov-ince.Methods:A total of 1 224(612 couples)were recruited from the Henan preconception eugenics health screening pro-gram from July to December,2022,the exon region and splicing region of 7 genes(PAH,PTPS,MUT,MMACHC,ATP7B,TYR,OCA2)were tested by high throughput sequencing.Results:The overall carrying rate of the 4 diseases was 8.74%(107/1 224),the carrying rates of PAH,PTPS,ATP7B,MMACHC,MUT,TYR and OCA2 were 2.53%,0.33%,2.04%,1.72%,0.74%,1.63%and 0.16%,respectively,and the highest carrying rate(3.35%)was found in northern Henan Province.Atotalof19 pathogenicvariantsof PAHgeneweredetected,andthetoponevariant(0.41%)wasc.721C>T.Two pathogenic variants of PTPS gene were detected and the carrying rate were0.16%.The c.2333G>T was carried most frequently(0.49%)amongthetotally9 pathogenic variants of ATP7B gene.The c.609G>A was carried most frequently(0.41%)among the totally 10 pathogenic variants of MMACHC gene.The c.1663G>A was carried most frequently(0.33%)amongthetotally6 pathogenicvariantsof MUTgene.The9pathogenicvariantsof TYRgeneweredetected,and thecarryingrateofc.929_930insC was the highest(0.57%).Only one mutation of OCA2 gene was detected,which was c.1182 +1G>A(0.16%).According to the Hardy-Weinberg law,the incidence rate of these 4 inherited metabolic disea-ses among childbearing age population in Henan Province was about 1/2 018.Conclusion:The carrying rate and the mor-bidity rate of 4 inherited metabolic diseases in population of childbearing age in Henan Province is defined,which could pro-vide a reference for the primary prevention of birth defects.
inherited metabolic diseasescarrier screeninghigh-throughput sequencingHenan Provincepopulation of childbearing age
万方数据
维普
