[1]刘芙蓉,王 兴,孙小红,等.甘肃省正常新生儿干血斑氨基酸及酰基肉碱串联质谱检测指标医学参考范围的调查[J].现代检验医学杂志,2018,33(02):31-34，37.[doi:10.3969/j.issn.1671-7414.2018.02.001]
　LIU Fu-rong,WANG Xing,SUN Xiao-hong,et al.Investigation on the Medical Reference Range of the Normal Neonates with the Amino Acid and Acyl Carnitine Tandem Mass Spectrometry in Gansu Province[J].Journal of Modern Laboratory Medicine,2018,33(02):31-34，37.[doi:10.3969/j.issn.1671-7414.2018.02.001]
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甘肃省正常新生儿干血斑氨基酸及酰基肉碱串联质谱检测指标医学参考范围的调查()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第33卷
期数:
2018年02期
页码:
31-34，37
栏目:
论著
出版日期:
2018-04-05

文章信息/Info

Title:
Investigation on the Medical Reference Range of the Normal Neonates with the Amino Acid and Acyl Carnitine Tandem Mass Spectrometry in Gansu Province
文章编号:
1671-7414(2018)02-031-05
作者:
刘芙蓉; 王 兴; 孙小红; 郑 雷; 周秉博; 郝胜菊
甘肃省妇幼保健院医学遗传学中心,甘肃省出生缺陷防控重点实验室,兰州 730050
Author(s):
LIU Fu-rong; WANG Xing; SUN Xiao-hong; ZHENG Lei; ZHOU Bing-bo; HAO Sheng-ju
Medical Genetics Center,Gansu Provincial Maternity and Child-care Hospital/Key Laboratory of Birth Defects Prevention and Control in Gansu Province,Lanzhou 730050,China
关键词:
甘肃省;  串联质谱;  氨基酸;  酰基肉碱;  医学参考范围
分类号:
R446.1
DOI:
10.3969/j.issn.1671-7414.2018.02.001
文献标志码:
A
摘要:
目的 确立甘肃省正常新生儿干血斑中氨基酸及酰基肉碱串联质谱检测指标的医学参考范围,为该省新生儿遗传代谢病筛查中氨基酸及酰基肉碱检测结果的判读提供依据。方法 采用非衍生串联质谱检测试剂盒,对甘肃省77 957例新生儿足跟血滤纸片进行遗传代谢病筛查。检测结果中的11种氨基酸和31种酰基肉碱按照95%的参考范围用SPSS19.0统计软件进行分析。结果 甘肃省正常新生儿干血斑中氨基酸及酰基肉碱串联质谱检测指标医学参考值(μmoL/L)分别为:ALA(216.17～727.58),ARG(1.80～33.03),CIT(4.87～30.67),GLY(183.43～841.46),LEU(79.85～289.45),MET(3.32～25.86),ORN(34.09～225.15),PHE(27.04～83.37),PRO(79.44～337.59),TYR(37.61～177.79),VAL(59.31～250.95),C0(9.35～45.35),C2(2.62～25.40),C3(0.46～3.3),C3DC_C4OH(0.02～0.20),C4(0.08～0.31),C4DC_C5OH(0.10～0.32),C5(0.05～0.30),C5:1(0.00～0.01),C5DC_C6OH(0.04～0.22),C6(0.01～0.06),C6DC(0.03～0.13),C8(0.02～0.08),C8:1(0.05～0.31),C10(0.02～0.12),C10:1(0.03～0.10),C10:2(0.01～0.10),C12(0.02～0.13),C12:1(0.02～0.10),C14(0.07～0.30),C14:1(0.03～0.13),C14:2(0.01～0.03),C14OH(0.00～0.02),C16(0.59～4.91),C16:1(0.03～0.30),C16:1-OH(0.01～0.08),C16OH(0.01～0.03),C18(0.29～1.30),C18:1(0.57～2.32),C18:1-OH(0.01～0.05),C18:2(0.08～0.51)和C18OH(0.00～0.02)。结论 甘肃省正常新生儿干血斑氨基酸及酰基肉碱串联质谱检测指标医学参考范围的建立,为该省新生儿群体串联质谱检测的结果判断提供参考依据。
Abstract:
Abstract:Objective To establish the medical reference range of amino acid and acyl car-nitine tandem mass spectrometry in normal neonates in Gansu province,and provide the basis for the determination of amino acidand acyl carnitine test results in the screening of neonatal genetic metabolicdiseases.Methods A non-derivatization tandem mass spectro-metry kit was used to screen 77 957 samples of neonates in Gansu province.Statistical soft-ware SPSS19.0 was used to analyze the 95% reference range of11 amino acids and 31 kinds of acylcarnitine indexes.Results The medical reference value(μmol/L)of the series mass spectra of newborngenetic metabolic diseases in Gansu province was established:ALA(216.17～727.58),ARG(1.80～33.03),CIT(4.87～30.67),GLY(183.43～841.46),LEU(79.85～289.45),MET(3.32～25.86),ORN(34.09～225.15),PHE(27.04～83.37),PRO(79.44～337.59),TYR(37.61～177.79),VAL(59.31～250.95),C0(9.35～45.35),C2(2.62～25.40),C3(0.46～3.3),C3DC_C4OH(0.02～0.20),C4(0.08～0.31),C4DC_C5OH(0.10～0.32),C5(0.05～0.30),C5:1(0.00～0.01),C5DC_C6OH(0.04～0.22),C6(0.01～0.06),C6DC(0.03～0.13),C8(0.02～0.08),C8:1(0.05～0.31),C10(0.02～0.12),C10:1(0.03～0.10),C10:2(0.01～0.10),C12(0.02～0.13),C12:1(0.02～0.10),C14(0.07～0.30),C14:1(0.03～0.13),C14:2(0.01～0.03),C14OH(0.00～0.02),C16(0.59～4.91),C16:1(0.03～0.30),C16:1-OH(0.01～0.08),C16OH(0.01～0.03),C18(0.29～1.30),C18:1(0.57～2.32),C18:1-OH(0.01～0.05),C18:2(0.08～0.51)and C18OH(0.00～0.02).Conclusion The establishment of the medical reference range of the normal neonatal dryblood spot aminoacid and acyl carnitine tandem mass spectrometry in Gansu province can providereference for the determination of the results of the cluster mass spectrometryin this region.

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备注/Memo

备注/Memo:
基金项目:兰州市科技计划项目(由兰州市科技局资助项目研究),项目编号:2016-2-26。 作者简介:刘芙蓉(1984-),女,硕士,检验师,研究方向:医学遗传学。 通讯作者:郝胜菊(1965-),女,硕士,主任医师,研究方向:医学遗传学,E-mail:76108060@qq.com。
更新日期/Last Update: 2018-04-16