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学科主题: 临床医学
题名:
Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency
作者: 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
发表日期: 2015
卷: 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
所属项目编号: 30973210 ; 81170602 ; 81300527
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000355306000131
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57672
Appears in Collections:北京大学第二临床医学院_期刊论文

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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

Recommended Citation:
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.
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