载脂蛋白AI-CⅢ基因区域DNA多态及单倍型频率的研究  

POLYMORPHISMS AND HAPLOTYPES IDENTIFIED BY DNA RESTRICTION-FRAGMENT-LENGTH POLYMORPHISMS IN THE apoAI-CⅢ GENE REGION

作　　者：孟祥文[1] 张贵寅[1] 杜杨柱 

机构地区：[1]哈尔滨医科大学医学遗传学研究室

出　　处：《遗传与疾病》1989年第4期209-212,248-249+259,共4页

摘　　要：本文以载脂蛋白AI(apoAI)cDNA片段(1.0kb)为探针,对50名正常血脂的汉族个体的apoAI-CⅢ基因区域DNA多态频率和特征进行了研究。发现了2个多态片段:S_2和M_2,其频率分别为0.153,0.167。并对其中44名个体进行了单倍型分析,未发现S_1S_2M_1M_1,S_2S_2M_1M_2和S_2S_2M_1M_1基因型个体。因此,可能仅存在3种单倍型:S_1-M_1,S_2-M_2及S_1-M_2,其频率分别为0.81,0.17,0.02。本研究结果还提示:由apoCⅢSst-Ⅰ和apoAI Msp-Ⅰ多态所确定的等位基因处于连锁不平衡状态。Polymorphisms and haplotypes identified by DNA Restriction Fragment-Length Polymorphisms in the apoAI-CⅢ gone region were investigated in 36 unrelated healthy Chinese, Genomic DNA hybridization analysis was made with a 1.0kb fragment of the human apoAI gene cDNA. The frequencise of the S_2 and M_2 allleles were 0.153 and 0.67. None of the 36 subjects had the genotypes S_1S_2M_1 M_1, S_2S_2M_1M_2 and S_2S_2M_2M_1. Three of the four possible haplotypes were identified; the frequencies of the haplotype were S_1-M_1=0.833, S_2-M_2=0.153, and S_1-M_2=0.014. The alleles identified by the apoCⅢ Sst-Ⅰ and ApoAI Msp-Ⅰ polymorphisms were noted to be in linkage disequilibrium

关 键 词：脂蛋白 基因区域 DNA 多态 单倍型 

分 类 号：Q523[生物学—生物化学]