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Variation of GT-repeat numbers associated with haplotype structure of human DNA ligase I locus
https://repo.qst.go.jp/records/61026
https://repo.qst.go.jp/records/6102634c6031f-d972-4fcf-b804-f5d55c10af64
| Item type | 会議発表用資料 / Presentation(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2005-07-07 | |||||
| タイトル | ||||||
| タイトル | Variation of GT-repeat numbers associated with haplotype structure of human DNA ligase I locus | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_c94f | |||||
| 資源タイプ | conference object | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Michikawa, Yuichi
× Michikawa, Yuichi× Suga, Tomo× Kouda, Masakazu× Ootsuka, Yoshimi× Suzuki, Hideyuki× Saegusa, Kumiko× Furuno, Aki× Ishikawa, Ken-ichi× Ishikawa, Atsuko× Kawai, Seiko× Tsuji, Atsushi× Sugyou, Aya× Noda, Shuhei× Iwakawa, Mayumi× Imai, Takashi× 道川 祐市× 菅 智× 神田 将和× 荘司 好美× 鈴木 英幸× 三枝 公美子× 古野 亜紀× 石川 顕一× 石川 敦子× 川井 聖子× 辻 厚至× 須尭 綾× 野田 秀平× 岩川 眞由美× 今井 高志 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | During the course of studying the genetic determinants of normal tissue injury after radiotherapy of cancer patients, we have detected positive correlation of some intronic SNPs on human DNA ligase I locus of chromosome 19 to the severity of the injury. The human DNA ligase I gene has three consecutive GT-repeat sequences franked by the same polypurine-rich sequence at a place very close to the exon-intron boundary of an alternatively spliced intron. In this study, we have analyzed stability of the GT-repeat sequences among individuals and haplotype structure surrounding this locus. The genomic region containing the above sequences were amplified from the blood DNA of 9 cancer patients by PCR and cloned into TA-cloning vector. Plasmid DNAs from 6 independent colonies of each transformant were purified and sequenced, respectively. We observed variations of the all three GT-repeats among cancer patients and also among the clones from each individual. Haplotype structure of the 4 SNPs that surround the GT-repeat sequences was estimated using the EM algorism. The nine cancer individuals were divided into 3 groups according to the above estimated haplotypes. By comparing the haplotype structure and the GT-repeat sequences, we found that the GT-repeat sequence that located closest to the exon-intron boundary seemed to have solid threshold range in variation for each haplotype. Functional relevance of the human DNA ligase I gene haplotype with different threshold range in length variation of GT-repeat sequence, in a sense related to the individual's radiation sensitivity, will be elucidated in further study. |
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| 会議概要（会議名, 開催地, 会期, 主催者等） | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | ASHG Meeting 2004 | |||||
| 発表年月日 | ||||||
| 日付 | 2004-10-30 | |||||
| 日付タイプ | Issued | |||||
