新疆地区新生儿遗传代谢病筛查早产儿与足月儿氨基酸参考区间的探讨  

Study on reference interval of amino acids of preterm and full-term infants for screening of neonatal genetic metabolic diseases in Xinjiang

作　　者：刘志娟[1] 叶明刚[1] 靳慧亚 哈斯提牙尔·杰恩斯 韩锐[1,2] LIU Zhijuan;YE Minggang;JIN Huiya;HASTIYA Jayens;HAN Rui(Department of Prenatal Diagnosis,Reproductive Medicine Center,The First Affiliated Hospital of Xinjiang Medical University,Urumqi,Xinjiang 830054,China;Research Center for Integrated Prevention and Treatment of Reproductive Diseases and Birth Defects,Urumqi,Xinjiang 830054,China)

机构地区：[1]新疆医科大学第一附属医院生殖医学中心产前诊断科,新疆乌鲁木齐830054 [2]生殖疾病与出生缺陷综合防治研究中心,新疆乌鲁木齐830000

出　　处：《中国优生与遗传杂志》2024年第5期967-970,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的本研究旨在探索新疆地区新生儿遗传代谢病筛查早产儿与足月儿氨基酸含量的参考范围,以便为新生儿遗传代谢病筛查中氨基酸结果的解读提供科学依据。方法利用串联质谱非衍生化技术,对2022年5月至2023年12月新疆地区的6008例新生儿样本中氨基酸含量进行了测定。根据胎龄分为早产儿组和足月儿组,氨基酸参考区间采用百分位数法(P_(0.5)~P_(99.5))表示,两组间比较采用秩和检验。结果早产儿与足月儿11种氨基酸均呈非正态分布。除亮氨酸(LEU)和蛋氨酸(MET)早产儿与足月儿差异无统计学意义外,丙氨酸(ALA)、缬氨酸(VAL)、甘氨酸(GLY)、鸟氨酸(ORN)、精氨酸(ARG)、苯丙氨酸(PHE)、脯氨酸(PRO)、酪氨酸(TYR)、瓜氨酸(CIT)等指标差异均有统计学意义。结论新疆地区早产儿与足月儿氨基酸参考区间的建立可为新生儿遗传代谢病实验室筛查提供参考依据,减少误判风险,使疾病诊断趋于精准。Objective This study was aimed to explore the reference range of amino acids'content in preterm infants and full-term infants in screening for neonatal genetic metabolic diseases in Xinjiang,so as to provide scientific basis for the interpretation of screening results for neonatal genetic metabolic diseases.Methods The amino acid content in 6008 newborn samples from May 2022 to December 2023 in Xinjiang region was determined by tandem mass spectrometry.The two groups were divided into preterm infants and full-term infants according to gestational age.The amino acids'reference interval was expressed by percentile method(P_(0.5)~P_(99.5)),and rank sum test was used for comparison between the two groups.Results The distribution of 11 amino acids in preterm and full-term infants was abnormal.In addition to leucine(LEU)and methionine(MET),there were no statistically significant differences between preterm infants and full-term infants,while alanine(ALA),valine(VAL),glycine(GLY),ornithine(ORN),arginine(ARG),phenylalanine(PHE),proline(PRO),tyrosine(TYR),citrulline(CIT)and other indicators showed statistically significant differences.Conclusion The establishment of amino acid reference interval of preterm and full-term infants in Xinjiang can provide reference for laboratory screening of neonatal genetic metabolic diseases,reduce the risk of misjudgment,and make disease diagnosis more accurate.

关 键 词：遗传代谢病筛查 串联质谱 氨基酸 参考区间 

分 类 号：R722.1[医药卫生—儿科]