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.
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)
出处
《山西医科大学学报》
CAS
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)。
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
newborn gene screening
heel blood
fatty acid oxidation metabolic disease
pathogenic gene
carrying rate
genotype
