载脂蛋白AⅠ-CⅢ基因簇多态性在心脑血管疾病低发的云南德宏傣族中的分布情况  

Distribution of apolipoprotein AⅠ-CⅢ gene cluster polymorphisms in low cardiocerebral vascular disease zone of Yunnan Dehong Dai population

作　　者：唐慧[1] 华映坤[1] 严新民[1] 邹云莲[1] 卫明荣 高建梅[1] 严颜[3] 董虹[1] 

机构地区：[1]云南省第一人民医院(昆明医学院附属昆华医院)临床基础医学研究所云南省重点实验室,昆明650032 [2]德宏景颇族傣族自治州医疗集团 [3]中国药科大学药学院

出　　处：《中华临床医师杂志（电子版）》2009年第9期57-64,共8页Chinese Journal of Clinicians(Electronic Edition)

基　　金：云南省科技厅-昆明医学院应用基础研究联合专项基金(2008CD044)

摘　　要：目的探讨载脂蛋白(apolipoprotein,apo)AⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ基因多态性在心脑血管疾病低发的云南德宏傣族人群中的分布情况。方法2002年4～5月在云南德宏和昆明两地随机抽样168名傣族和72名汉族人,提取基因组DNA后,应用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polym orphism,PCR-RFLP)技术检测apoAⅠ-CⅢ基因簇中apoAⅠ启动子区MspⅠ多态性(-75bpG/A和+83bpC/T)和apoCⅢ3′端非编码区的SstⅠ多态性。结果apoAⅠ-CⅢ基因簇的apoAⅠ/MspⅠ和apoCⅢ/SstⅠ的等位基因M1+、M1-、M2+、M2-、S+、S-在傣汉两民族的分布频率依次为傣族:0.735、0.265、0.938、0.062、0.310、0.690;汉族:0.715、0.285、0.917、0.083、0.347、0.653。apoAⅠ-CⅢ基因簇的这6个等位基因频率在傣汉两民族间无统计学意义(P>0.05)。比较分析21个不同人群apoAⅠ/MspⅠ基因多态性和35个不同人群apoCⅢ/SstⅠ基因多态性的结果表明,德宏傣族人群apoAⅠ-CⅢ基因簇多态性分布与同属于蒙古人种的人群接近,而与高加索人种和尼格罗人种有较大的差异性。结论apoAⅠ-CⅢ基因簇的apoAⅠ基因启动子区-75bp和+83bp位点的基因多态性可能是德宏傣族人群心脑血管疾病患病率较低的重要遗传因素。而apoCⅢ的S+等位基因在该人群中并不是心脑血管疾病患病的易感因子。傣族人群具有较低的心脑血管疾病患病率应归因于遗传因素和环境因素协同作用的结果。Objective To investigate the gene polymorphisms of apoAⅠ/MspⅠ and apoC lll/Sst Ⅰ of apo AⅠ/CⅢ gene cluster in Yunnan Dehong Dai population which has been reported have low cardiocerebral vascular disease rate. Methods A total of 168 endogamous subjects of Chinese Dehong Dai and 72 subjects of Chinese Kunming Han were surveyed by a stratified randomized cluster sampling. After extracting genomic DNA, the polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） technique was used to investigate the apoAⅠ/MspⅠ polymorphisms adjacent to the initiate transcription sites （ -75 bp G/A and ＋ 83 bp C/T） and genetic variation of 3＇ -untranslated region （3＇ UTR） of apoCⅢ/Sst Ⅰ polymorphism. Results The allelic frequencies of apoAⅠ/MspⅠ and CⅢ/Sst Ⅰ in apoA- Ⅰ/CⅢ gene cluster M1 ＋ , M1 - , M2 ＋ , M2 - ; S ＋ , S - in Dehong Dai were 0. 735,0. 265, 0. 938,0. 062,0. 310, and 0. 690, while the frequencies of these alleles in Kunming Han were 0. 715,0. 285, 0. 917, 0. 083; 0. 347, and 0. 653, respectively. There was not significantly differences between Chinese Dehong Dai and Kunming Han on the frequencies of 6 alleles investigated in present study （P 〉 0. 05 ）. Comparative analysis of apoAⅠ/MspⅠ and apoCⅢ/sst Ⅰpolymorphisms in 21 and 34 different populations manifest the distribution of apoA I -CⅢ gene cluster polymorphisms in Chinese Dehong Dai population is similar to those in Mongoloid populations, but different from those in Caucasians and Negroid. Conclusions apoAⅠ/MspⅠ polymorphisms of apoA Ⅰ -CⅢ/ gene cluster at - 75 bp G/A and ＋ 83 bp C/T sites might be important genetic cause of low cardiocerebral vascular disease rate in Yunnan Dehong Dai population,while the S ＋ allele of apoCⅢ//Sst Ⅰ polymorphism isnot the susceptible factor of cardiocerebral vascular disease in this particular population. It was suggested that synergetic effect of genetic and environmental factors may contribute to the low cardiocerebral vascul

关 键 词：载脂蛋白A-Ⅰ 载脂蛋白CⅢ 多基因族 少数民族 基因频率 

分 类 号：R54[医药卫生—心血管疾病] R743[医药卫生—内科学]