合肥市原发性肉碱缺乏症新生儿筛查及基因变异分析  

Neonatal screening and gene variation analysis of primary carnitine deficiency in Hefei City

作　　者：胡海利 李卫东 王燕 宋旺生 马庆庆 HU Haili;LI Weidong;WANG Yan;SONG Wangsheng;MA Qingqing(The Health Center of Women and Children in Hefei,Hefei 230092,Anhui,China;Anhui Maternal and Child Health Hospital,Hefei 230001,Anhui,China)

机构地区：[1]合肥市妇女儿童保健中心,安徽合肥230092 [2]安徽省妇幼保健院,安徽合肥230001

出　　处：《临床儿科杂志》2023年第10期680-684,共5页Journal of Clinical Pediatrics

基　　金：合肥市卫健委2016年应用医学研究项目(No.hwk2016yb016)。

摘　　要：目的 分析合肥市新生儿原发性肉碱缺乏症(PCD)的筛查情况及基因变异特征。方法 应用串联质谱技术对2016年1月至2021年12月合肥市新生儿疾病筛查中心筛查的631 839份新生儿筛查样本进行检测,初筛阳性者召回新生儿及其母亲进行复筛,复筛结果仍低于临界参考值者,进行高通量二代基因测序。结果 共确诊PCD新生儿32例(总体发病率为1/19745)。在32例新生儿中,31例进行高通量测序联合Sanger验证,1例未检出基因变异,30例检出基因变异(男18例、女12例),其中复合杂合变异25例,纯合变异5例,基因确诊率为96.8%。在基因检测阳性30例患儿SLC22A5基因的60个变异中,变异比例最高的为c.1400C>G,占48.3%(29/60),其次为c.51C>G,占15.0%(9/60)。结论 合肥市新生儿PCD总体发病率与国内其他地区差异不明显。c.1400 C>G和c.51 C>G是合肥市新生儿PCD基因变异的常见位点。Objective To analyze the screening status and genetic variation characteristics of primary carnitine deficiency(PCD) in neonates in Hefei.Methods A total of 631839 newborn screening samples screened by Hefei Neonatal Disease Screening Center from January 2016 to December 2021 were detected by tandem mass spectrometry.Newborns and their mothers with positive initial screening were recalled for re-screening.If the re-screening results were still lower than the critical reference value,high-throughput second-generation gene sequencing was performed.Results A total of 32 neonates were diagnosed with PCD(overall incidence:1/19745).Among 32 neonates,31 underwent high-throughput sequencing combined with Sanger validation,1 had no genetic variation and 30 had genetic variation(18 boys and 12 girls).There were 25 cases of complex heterozygous variation and 5 cases of homozygous variation,and the gene diagnosis rate was 96.8%.Among the 60 variants of SLC22A5 gene in 30 positive children,c.1400C>G had the highest variation ratio,accounting for 48.3%(29/60),followed by c.51CG,accounting for 15.0%(9/60).Conclusions The overall incidence of neonatal PCD in Hefei was not significantly different from that in other areas of China.c.1400C>G and c.51C>G were the common sites of PCD gene variation in newborns in Hefei City.

关 键 词：原发性肉碱缺乏症 基因变异 新生儿筛查 

分 类 号：R722.1[医药卫生—儿科]