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題名 | Human α-L-Iduronidase (IDUA) Gene: Apparent Recombination in Intron 2 by Haplotype Analysis in a Taiwanese Population=人類IDUA基因:一臺灣人族群的單套型分析顯示介入子2的基因重組現象 |
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作者 | 李桂楨; 王作仁; 胡務亮; 戴坤蓉; 王政光; | 書刊名 | 臺灣醫學會雜誌 |
卷期 | 97:7 1998.07[民87.07] |
頁次 | 頁465-470 |
分類號 | 364.21 |
關鍵詞 | 人類; IDUA基因; 臺灣人; 單套型分析; 介入子2; 基因重組; α-l-iduronidase polymorphism; Haplotype; Linkage disequilibrium; |
語文 | 英文(English) |
英文摘要 | The polymorphic DNA haplotype of the α-L-iduronidase (IDUA) gene in a Taiwanese population was investigated. Genomic DNA extracted from 85 volunteers was used to amplify fragments containing the polymorphic sites A8, A20 and Q33H from exon 1 and a variable number of tandem repeats (VNTR) region in intron 2.Additionally, sites R105Q and L118 in exon 3, A314 from exon 7, A361T and T388 from exon 8, T410 and V454I from exon 9, and R489 from exon 10 were amplified. The polymerase chain reaction-amplified products were analyzed by restriction fragment length polymorphism (RFLP) analysis, allele specific oligonucleotide (ASO) hybridization, or gel electrophoresis. Of the examined polymorphisms, the intron 2 VNTR was not in Hardy-Weinberg equilibrium. Conversely, all 11 single base change polymorphisms were in Hardy-Weinberg equilibrium. Linkage disequilibrium analysis of the haplotype data revealed strong nonrandom association between A8 and A20 in exon 1 as well as among R105Q. A314, A361T, T388, T410, V454I, and R489 in exons 3 to 10. In contrast, little linkage disequilibrium between two clusters of linked polymorphisms on either side of the VNTR was observed. The results suggest apparent recombination in intron 2 of the IDUA gene, with little or no recombination in exon 1 or exons 3 to 10. |
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