摘要
利用２．２ｋｂ人载脂蛋白ＡＩ基因探针，检测５７例高脂血症患儿及３８例正常血脂儿童的载脂蛋白（ａｐｏ）ＡＩ－ＣＩＩＩ基因区限制性片段长度多态性。发现中国上海汉族儿童人群ａｐｏＡＩ－ＣＩＩＩ基因区存在Ｓｓ ｔＩ多态位点，其等位基因频率Ｓ＿１为０．９８，Ｓ＿２为０．１２，明显不同于其他种族。并发现该多态位点与高胆固醇血症、高甘油三酯血症、高胆固醇合并高甘油三酯血症，均无密切关系，不能作为该地区高脂血症患儿的遗传标记。
olymorphism identified by DNA restriction fragment lengh polymorphism in the apolipoprotein(apo) AI-CIII gene region was investigated in 57 children patients with hyperlipidemias and 38 normal Chinese children, using genomic DNA hybridization analysis with a 2.2kb full length of apoAI gene probe. A mutant polymorphic site(S_2) in the apoAI-CIII gene region was found in the children population of Shanghai city in China. The frequence of the S_2 allele was 0.12,much higher than that in Caucasians, but lower than that in Japanese. The results confirm the divergency of S_2 gene frequence in various racial groups.The authors also found the S_2 polymorphic sites are not associated with hyperlipidemias, and can not be used as a genetic marker in these populations.
