[中国家族性脂蛋白脂肪酶缺乏症的基因分析]
[A gene analysis of familial lipoprotein lipase deficiency in China].
作者信息
Shen J, Chen R, Hu W, Bingshen K E, Li L, Du Y, Liu Y
机构信息
Department of Pathophysiology, Shandong Medical University, Jinan, 250012 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Aug;16(4):233-5.
OBJECTIVE
To investigate the gene mutation of lipoprotein lipase(LPL) of familial LPL deficiency in China.
METHODS
The DNA sequencing of LPL gene of the patients was performed with the dideoxy method based on the polymerase chain reaction amplification using the genomic DNA as a template.
RESULTS
It was identified that a missense mutation in exon 6 of LPL gene (6G(979)-->A) resulted in the substitution of Glu(242) by Lys in a heterozygous state.
CONCLUSION
The missense mutation of LPL may play a key role in the decrease of LPL activity. This is the first report about the gene mutation of LPL at this site in familial LPL deficiency. Moreover, it contributes to the elucidation of the pathophysiological mechanisms of atherosclerosis and some metabolic diseases.
目的
研究中国家族性脂蛋白脂肪酶（LPL）缺乏症患者的脂蛋白脂肪酶基因突变情况。
方法
以基因组DNA为模板，采用基于聚合酶链反应扩增的双脱氧法对患者的LPL基因进行DNA测序。
结果
鉴定出LPL基因外显子6中的一个错义突变（6G(979)-->A），导致杂合状态下Glu(242)被Lys替代。
结论
LPL的错义突变可能在LPL活性降低中起关键作用。这是关于家族性LPL缺乏症中该位点LPL基因突变的首次报道。此外，它有助于阐明动脉粥样硬化和一些代谢性疾病的病理生理机制。
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