Ionescu C R, Petrescu-Dănilă Elena, Voicu Pia-Manuela, Durbală Irina, Botnariu Gina, Graur Mariana, Petrovanu Rodica, Dimofte Iuliana
Disciplina de Biologie Celulară si Moleculară, Facultatea de Medicina, Universitatea de Medicină si Farmacie "Gr. T. Popa", Iaşi.
Rev Med Chir Soc Med Nat Iasi. 2005 Oct-Dec;109(4):848-53.
Modifications of plasma lipid profile is one of the major causes of a high cardiovascular risk. They can be the consequences of mutations in the gene encoding lipoprotein lipase (LPL), an enzyme that has an important role in the metabolism of plasma lipoproteins. The aim of the present study was to put into practice a method for detecting the Gly188Glu mutation in the LPL gene. The search was performed on a group of 107 patients with cardiovascular diseases and/or dyslipidemias. DNA investigation consisted, in a first stage, in the enzymatic digestion of exon 5 of the LPL gene, previously amplified by the PCR reaction, with the AvaII restriction endonuclease. Three of the subjects were further investigated by the sequencing of exon 5, in order to search for the presence of other mutations. We didn't detect the Gly188Glu mutation in none of the cases, and no other mutation in exon 5 was found in the three patients tested by DNA sequencing. We conclude that the amplification-restriction method can be used for the detection of known mutations in the LPL gene, allowing an early identification of the subjects with a high cardiovascular risk and the onset of the appropriate therapy. In order to detect mutations which don't affect the recognition sequence of a restriction enzyme and eventually new mutations, the sequencing of that gene is recommended.
血浆脂质谱的改变是心血管疾病高风险的主要原因之一。它们可能是编码脂蛋白脂肪酶（LPL）的基因突变的结果，LPL是一种在血浆脂蛋白代谢中起重要作用的酶。本研究的目的是实践一种检测LPL基因中Gly188Glu突变的方法。研究对象为107例患有心血管疾病和/或血脂异常的患者。DNA检测的第一阶段是用AvaII限制性内切酶对LPL基因第5外显子进行酶切，该外显子此前已通过PCR反应扩增。对其中3名受试者进一步进行第5外显子测序，以寻找其他突变的存在。在所有病例中均未检测到Gly188Glu突变，在通过DNA测序检测的3名患者中也未发现第5外显子的其他突变。我们得出结论，扩增-酶切方法可用于检测LPL基因中的已知突变，有助于早期识别心血管疾病高风险患者并启动适当治疗。为了检测不影响限制性内切酶识别序列的突变以及最终的新突变，建议对该基因进行测序。
