https://scholars.lib.ntu.edu.tw/handle/123456789/194804
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | HWU, WUH-LIANG | en |
dc.creator | 胡務亮 | zh-tw |
dc.creator | HWU, WUH-LIANG | en |
dc.date | 1998 | en |
dc.date.accessioned | 2008-12-22T03:08:45Z | - |
dc.date.accessioned | 2018-07-11T17:53:15Z | - |
dc.date.available | 2008-12-22T03:08:45Z | - |
dc.date.available | 2018-07-11T17:53:15Z | - |
dc.date.issued | 1998 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/92539 | - |
dc.description.abstract | The polymorphic DNA haplotype of the alpha-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 R 489 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 Handy-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, T 410, V454I, and R 489 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. | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION v.97 n.7 pp.465-70 | en |
dc.relation.ispartof | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | - |
dc.title | Human Alpha-L-Iduronidase (Idua) Gene: Apparent Recombination in Intron 2 by Haplotype Analysis in a Taiwanese Population | en |
dc.type | journal article | en |
dc.relation.pages | 465-70 | - |
dc.relation.journalvolume | v.97 | - |
dc.relation.journalissue | n.7 | - |
item.fulltext | no fulltext | - |
item.openairetype | journal article | - |
item.languageiso639-1 | en_US | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
顯示於: | 醫學系 |
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