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为了探讨广东地区高脂血症患者脂蛋白脂酸（lipoprotein lipase,LPL）基因的分子变异,从258例高脂血症患者外周血白细胞中提取基因组DNA,用PCR-SSCP方法分析外显子4及其附近区域,对SSCP带型异常样品进行克隆和序列测定。在2名高脂血症患者LPL基因内含子3的3’端-6bP处发现C→T转换突变,252例正常对照中未发现该突变。IVS-3的C→T突变可能与高脂血症有关。
In order to investigate the molecular variation of lipoprotein lipase (LPL) gene in patients with hyperlipidemia in Guangdong Province, genomic DNA was extracted from peripheral blood leukocytes of 258 hyperlipidemic patients and analyzed by PCR-SSCP And its vicinity, SSCP band abnormal samples were cloned and sequenced. A C → T transition mutation was found at the 3 ’end and 6bP of intron 3 of LPL gene in two hyperlipidemic patients, and no mutation was found in 252 normal controls. C → T mutation of IVS-3 may be related to hyperlipidemia.