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Title: 人類表面蛋白B基因
Other Titles: Human Apolipoprotein B Gene:Polymorphic Haplotype Analysis in Chinese Subjects
Authors: 黃乙玉
Issue Date: Dec-1997
Publisher: 國立臺灣師範大學生命科學學系
Department of Life Science, NTNU
Abstract: 本研究在分析中國人族群的表面蛋白(apo)B基因的多型性單套型。我們自正常人族群逢機取樣118人,萃取其基因組DNA,以聚合酵素鏈反應(PCR) 放大包含apo B基因多型性點的片段。所檢測的多型性點包含6個限制酵素的切割位置 (ApaLI、AluI、MaeI、MspI、EcoRI、Eco571)與一個訊息□□區9個核□酸鹽基對的插入或缺失的多型性點(I/D)。PCR 放大的含多型性點的DNA 片段,直接以膠體電泳檢查(I/D多型性),或以限制酵素切割後檢查之(限制酵素切點多型性)。所檢測的236條染色體中,沒有觀察到MspI切點的多型性,其餘各多型性的對偶基因頻率及異型合子率皆符合哈溫定律。單套型的連鎖不平衡分析顯示,位於表現子1-14上的I/D、ApaLI、AluI等多型性對偶基因間為非逢機性的組合,相同的現象亦見於表現子26-29上的MaeI、EcoRI、Eco57I之對偶基因間。相反的,位於表現子1-14和 26-29上的多型性點間,則無連鎖不平衡現象。本研究結果顯示,雖然apo B基因5'或3'端皆無重組發生,apo B基因的中間部位則有明顯的基因重組現象。
The polymorphic DNA haplotype of the human apolipoprotein (apo) B gene in Chinese subjects was analyzed. Genomic DNA extracted from randomly sampled 118 unrelated individuals was used to amplify fragments containing polymorphic change sites of the apo B gene. The polymorphic loci include 6 restriction endonuclease sites (ApaLI, AluI, MaeI, MspI, EcoRI, and Eco57I) and an insertion/deletion (I/D) polymorphism involving the signal peptide region of the apo B gene. The polymerase chain reaction (PCR) amplified products were analyzed directly (for I/D polymorphism), or following specific enzyme digestion (for restriction site polymorphism). Among 236 chromosomes examined, no polymorphic allele was detected for MspI Iocus. All other diallelic loci examined are in Hardy-Weinberg equilibrium. Linkage disequilibrium analysis of the haplotype data revealed strong nonrandom allelic associtation among I/D, ApaLI, and AluI in exons 1,14 as well as among MaeI, EcoRI, and Eco57I in exons 26-29. On the other hand, little linkage disequilibrium between loci in exons 1-14 and exons 26-29 was observed. The results suggest the apparent recombination in the central region of the human apo B gene with little or no recombination in the 5' or 3' end.
Other Identifiers: A3869F29-84BD-BE3D-853A-4913C43BB810
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