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Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency
Liu, Jing1; Dong, Lei2,3; Wang, Yan4; Zhang, Mei1
关键词Ornithine Transcarbamylase Deficiency Mutation Ornithine Transcarbamylase Ms-ms Assay
刊名INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
2015
8期:2页:2656-2661
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Medicine, Research & Experimental
研究领域[WOS]Research & Experimental Medicine
关键词[WOS]OTC GENE
英文摘要

We aim to analyze the blood metabolic profiling and the gene mutation of ornithine transcarbamylase (OTC) in three neonates with ornithine transcarbamylase deficiency (OTCD). Three neonates with OTCD were included in this study. The profiling of amino acids and acylcarnitine was determined using MS-MS assay. The OTC exons were amplified using PCR amplification. DNA sequencing was performed, based on which mutation analysis of OTC genes was carried out. For the clinical symptoms, all the three neonates showed poor reaction and feeding. In addition, convulsion and neonatal infection were noticed. A remarkable decrease of citrulline concentration was revealed by MS-MS assay. In case 1, a 548A > G substitution was identified in exon 6, which resulted in replacement of cysteine by tyrosine in codon 183. In case 2, a 1016T > G substitution was identified in exon 10, leading to replacement of valine by glycine in codon 339. In case 3, a 995G > C mutation was noted in exon 9, resulting in missense mutation of tryptophane to serine in codon332. Three types of OTC gene mutations were identified in Chinese neonates with OTC deficiency, among which two novel mutations, including 1016T > G and 995G > C, are presented uniquely in our study.

语种英语
WOS记录号WOS:000355306000131
项目编号30973210 ; 81170602 ; 81300527
资助机构National Natural Science Foundation of China
引用统计
被引频次:1[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57672
专题北京大学第二临床医学院
作者单位1.Beijing PLA, Gen Mil Hosp, Dept Pharmacol, Beijing 100700, Peoples R China
2.Peking Univ, Peoples Hosp, Dept Surg, Beijing 100044, Peoples R China
3.Peking Univ, Peoples Hosp, Lab Surg Oncol, Beijing 100044, Peoples R China
4.Beijing PLA, Gen Mil Hosp, BaYi Childrens Hosp, Beijing 100700, Peoples R China
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GB/T 7714
Liu, Jing,Dong, Lei,Wang, Yan,et al. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency[J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE,2015,8(2):2656-2661.
APA Liu, Jing,Dong, Lei,Wang, Yan,&Zhang, Mei.(2015).Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE,8(2),2656-2661.
MLA Liu, Jing,et al."Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency".INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE 8.2(2015):2656-2661.
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