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学科主题: 基础医学
题名:
A novel substitution at the translation initiator codon (ATG -> ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis
作者: Yu, XH; Zhao, TQ; Wang, L; Liu, ZP; Zhang, CM; Chen, R; Li, L; Liu, G; Hu, WC
关键词: lipoprotein lipase deficiency ; gene mutation ; initiation codon ; polymerase chain reaction-single-strand conformation polymorphism ; DNA sequencing ; expression analysis
刊名: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
发表日期: 2006-03-03
DOI: 10.1016/j.bbrc.2005.12.165
卷: 341, 期:1, 页:82-87
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Biochemistry & Molecular Biology ; Biophysics
研究领域[WOS]: Biochemistry & Molecular Biology ; Biophysics
关键词[WOS]: LPL GENE ; MUTATION ; CONFORMATION ; AUG
英文摘要:

A patient with severe hypertriglyceridemia and recurrent pancreatitis was found to have significantly decreased lipoprotein lipase (LPL) activity and normal apolipoprotein C-II concentration in post-heparin plasma. DNA analysis of the LPL gene revealed two mutations, one of which was a novel homozygous G -> C substitution, resulting in the conversion of a translation initiation codon methionine to isoleucine (LPL-1). The second was the previously reported heterozygous substitution of glutamic acid at residue 242 with lysine (LPL-242). In vitro expression of both mutations separately or in combination demonstrated that LPL-1 had approximately 3% protein mass and 2% activity, whereas LPL-242 had undetectable activity but normal mass. The combined mutation LPL-1-242 exhibited similar changes as for LPL-1, with markedly reduced mass, and for LPL-242, with undetectable activity. These results suggest that the homozygous initiator codon mutation rather than the heterozygous LPL-242 alteration was mainly responsible for the patient phenotypes. (c) 2005 Elsevier Inc. All rights reserved.

语种: 英语
WOS记录号: WOS:000235313400013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61313
Appears in Collections:基础医学院_心血管所_期刊论文

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作者单位: 1.Peking Univ, Hlth Sci Ctr, Key Lab Mol Cardiovasc Sci, Beijing 100083, Peoples R China
2.Peking Univ, Hlth Sci Ctr, Inst Cardiovasc Sci, Beijing 100083, Peoples R China
3.Shandong Univ, Sch Med, Dept Pathophysiol, Jinan 250012, Peoples R China
4.Shandong Univ, Sch Pharmaceut Sci, Ctr New Drugs Safety Evaluat, Jinan 250012, Peoples R China
5.Shandong Univ, Sch Pharmaceut Sci, Inst Comparat Med, Jinan 250012, Peoples R China

Recommended Citation:
Yu, XH,Zhao, TQ,Wang, L,et al. A novel substitution at the translation initiator codon (ATG -> ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2006,341(1):82-87.
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