山西医科大学学报2024，Vol.55Issue(10)：1343-1346,4.DOI:10.13753/j.issn.1007-6611.2024.10.011
内蒙古地区新生儿短、中、极长链酰基辅酶A脱氢酶缺乏症致病基因携带筛查分析
Analysis of screening results of pathogenic gene carrier of short-,medium-and very long-chain acyl-CoA dehydrogenase de-ficiency in neonate in Inner Mongolia
摘要
Abstract
Objective To investigate the gene mutation carrier rate of short-chain acyl-CoA dehydrogenase deficiency(SCADD),me-dium-chain acyl-CoA dehydrogenase deficiency(MCADD),and very long-chain acyl-CoA dehydrogenase deficiency(VLCADD)in the Inner Mongolia newborns.Methods A cross-sectional study was conducted,and 3 233 newborns were randomly selected for gene screening.Footprint blood was collected to extract genomic DNA.The mutations of ACADS gene(C-2 to C-3 short-chain acyl-CoA dehydrogenase),ACADM gene(C-4 to C-12 straight-chain acyl-CoA dehydrogenase),and ACADVL gene(very long-chain acyl-CoA dehydrogenase)were detected.The mutation sites and the carrier rate were analyzed.Results Among the 3 233 newborns,22 had the pathogenic gene of ACADS,with a carrier rate of 0.68%,and c.164C>T mutation was the most common.Eight had the patho-genic gene of ACADM,with a carrier rate of 0.25%,and c.449 452delCTGA was the most common.Seven cases carried ACADVL pathogenic genes,with a carrier rate of 0.22%,and c.865G>A was the most common.Conclusion SCADD,MCADD and VLCADD are relatively rare in Inner Mongolia newborns,and the gene mutation site and type is different in Inner Mongolia newborns.关键词
新生儿基因筛查/足跟血/脂肪酸氧化代谢病/致病基因/携带率/基因型Key words
newborn gene screening/heel blood/fatty acid oxidation metabolic disease/pathogenic gene/carrying rate/genotype分类
医药卫生引用本文复制引用
高娜,秦磊,朱博,王玲,冀云鹏,王晓华,王鑫,张美玲,王艳,康文光..内蒙古地区新生儿短、中、极长链酰基辅酶A脱氢酶缺乏症致病基因携带筛查分析[J].山西医科大学学报,2024,55(10):1343-1346,4.基金项目
内蒙古自治区卫健委科技项目(2023SGGZ0044) （2023SGGZ0044）
