@misc{oai:repo.qst.go.jp:00061026,
 author = {Michikawa, Yuichi and Suga, Tomo and Kouda, Masakazu and Ootsuka, Yoshimi and Suzuki, Hideyuki and Saegusa, Kumiko and Furuno, Aki and Ishikawa, Ken-ichi and Ishikawa, Atsuko and Kawai, Seiko and Tsuji, Atsushi and Sugyou, Aya and Noda, Shuhei and Iwakawa, Mayumi and Imai, Takashi and 道川 祐市 and 菅 智 and 神田 将和 and 荘司 好美 and 鈴木 英幸 and 三枝 公美子 and 古野 亜紀 and 石川 顕一 and 石川 敦子 and 川井 聖子 and 辻 厚至 and 須尭 綾 and 野田 秀平 and 岩川 眞由美 and 今井 高志},
 month = {Oct},
 note = {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., ASHG Meeting 2004},
 title = {Variation of GT-repeat numbers associated with haplotype structure of human DNA ligase I locus},
 year = {2004}
}