%0 Journal Article
%T Variants of Exon 4 and Its Flanking Region of LPL Gene in Patients with Hyperlipidemia<br>高脂血症患者脂蛋白脂酶基因外显子4区域变异的研究
%A ZHAO Ying-she
%A YANG Zhong-han
%A FENG Jian-sheng
%A JIANG Jian-wei
%A WU Mei-yu
%A ZHOU Tian-hong
%A <br>赵迎社
%A 杨中汉
%A 冯建生
%A 蒋建伟
%A 吴美玉
%A 周天鸿
%J 遗传
%D 2002
%I 
%X 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.
%K lipoprotein lipase
%K hyperlipidemia
%K polymerase chain reaction
%K single strand conformation polymorphism<br>高脂血症
%K 脂蛋白脂酶基因
%K 外显子4区域变异
%K 多聚酶链反应
%K 单链构象多态性
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=7C081A887904A166&yid=C3ACC247184A22C1&vid=B91E8C6D6FE990DB&iid=94C357A881DFC066&sid=89389F643CA3F778&eid=91BAD12CFABB3251&journal_id=0253-9772&journal_name=遗传&referenced_num=2&reference_num=7