中文摘要：

目的：分析异常黑胆质与载脂蛋白E基因多态性的关联。方法按照《维吾尔医诊断学》标准诊断喀什地区维吾尔族居民异常黑胆质组515例（异常黑胆质组），诊断正常体液类型308例作为正常体液组，采用高分辨熔解取合酶链反应（HMR-PCR方）法对ApoE基因进行基因分型，分析ApoE基因rs405509、rs769450位点多态性，比较两组基因型和等位基因的分布频率。结果异常黑胆质组和正常体液组rs405509位点主要基因型为AC （47．7％和51．0％），主要等位基因为A （54．6％和60．1％）；rs769450位点主要基因型为GG （48．3％和49．7％），主要等位基因为G（69．4％和72．1％）；异常黑胆质组ApoE基因rs405509位点CC基因型和C等位基因频率高于正常体液组（P ＜0.05），两组rs769450和rs405509位点A G倡单倍比较，差异有统计学意义（P ＜0.01）。结论rs405509位点多态性、rs769450和rs405509位点A G倡单倍与异常黑胆质有关联。

英文摘要：

Objective To analyze the association of the abnormal savda and the polymorphism of Apoli-poprotein E gene .Methods The Helit Syndrome of Uighur residents were diagnosed in accordance with the“Uighur medical diagnostics”standard .There were 515 abnormal savda cases and 308 normal helit syn-drome .HMR-PCR was used to conduct genotyped of ApoE gene .The polymorphism of rs405509 and rs769450site of ApoE gene were Analyzed ,comparing with the frequency distribution rs405509 site of＂nbsp;ApoE gene .Results The main genotype in rs405509 site was AC （47 7.% 51 0.% ） and the main allele was G （54 6.% 60 1.% ） in abnormal savda and normal helit syndrome group .The main genotype in rs769450 site of ApoE gene was GG （48 3.% ,49 7.% ） and the main allele was G （69 4.% ,72 1.% ） .The frequency of CC genotype and C allele in rs405509 site in the abnormal savda was higher than Helit Syndrom population （P〈0.05） .The statistically significant difference of AG Haplotype was found in the two sites of ApoE gene （P 〈 0 .01 ） .Conclusion The polymorphism of rs405509 site and AG Haplotype of rs405509 and rs769450site of ApoE gene may be associated with the abnormal savda .