[Variants of exon 4 and its flanking region of LPL Gene in patients with hyperlipidemia].

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.