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

作　　者：高娜 朱博 王玲 冀云鹏 王晓华 王鑫 张美玲 王艳 康文光 秦磊 GAO Na;ZHU Bo;WANG Ling;JI Yunpeng;WANG Xiaohua;WANG Xin;ZHANG Meiling;WANG Yan;KANG Wen-guang;QIN Lei(Department of Genetic Eugenics,Inner Mongolia Engineering Research Center of Medical Genetics,Maternal and Child Health Hospital of Inner Mongolia,Hohhot 010010,China;School of Public Health,Baotou Medical College;Hohhot Interna-tional Travel Health Care Center)

机构地区：[1]内蒙古自治区妇幼保健院遗传优生科,医学遗传学内蒙古自治区工程研究中心,呼和浩特010010 [2]包头医学院公共卫生学院 [3]呼和浩特国际旅行卫生保健中心

出　　处：《山西医科大学学报》2024年第10期1343-1346,共4页Journal of Shanxi Medical University

基　　金：内蒙古自治区卫健委科技项目(2023SGGZ0044)。

摘　　要：目的 了解短链酰基辅酶A脱氢酶缺乏症(SCADD)、中链酰基辅酶A脱氢酶缺乏症(MCADD)和极长链酰基辅酶A脱氢酶缺乏症(VLCADD)在内蒙古新生儿中致病基因突变的携带情况。方法 采用横断面研究,随机抽取3 233名新生儿纳入基因筛查。采集足跟血,提取基因组,对C-2至C-3短链酰基辅酶A脱氢酶基因(ACADS)、C-4至C-12直链酰基辅酶A脱氢酶基因(ACADM)、极长链酰基辅酶A脱氢酶基因(ACADVL)3个基因上突变进行检测。研究比较3个基因的突变位点及携带情况。结果 在3 233例新生儿中,携带ACADS致病基因22例,携带率为0.68%,以c.164C>T突变为主。携带ACADM的致病基因8例,携带率为0.25%,以c.449_452delCTGA为最多见。携带ACADVL的致病基因7例,携带率为0.22%,c.865G>A为最多见的基因位点。结论 SCADD、MCADD、VLCADD在内蒙古地区新生儿中相对罕见,且基因突变携带在内蒙古地区新生儿中有差异。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 3233 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 3233 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.449452delCTGA 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 

分 类 号：R722[医药卫生—儿科]