Variants of Exon 4 and Its Flanking Region of LPL Gene in Patients with Hyperlipidemia
高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究

To elucidate abnormalities of LPL gene in hyperlipidemia in the Chinese population in Guangdong, genomic DNA was extracted from leukocyte of 258 patients with primary hyperlipidemia. A segment of LPL gene including exon 4 and its flanking sequences was analyzed by PCR - SSCP. The PCR products with abnormal SSCP pattern were cloned and sequenced. As a C-T transition mutation at-6 bp of intron 3 was found in two Chinese with hyperlipidemia and the mutation was not found in 252 normolipidemic controls,the C-T transition in intron 3 may be related to hyperlipedemia.