WEKO3
アイテム
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
http://hdl.handle.net/2298/9182
http://hdl.handle.net/2298/9182c11eed3b-3dac-4d68-ac7b-b9efff65c40b
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
Reposit-HG-00bYI.pdf (335.9 kB)
|
|
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2008-08-18 | |||||
| タイトル | ||||||
| タイトル | Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題 | uniparental disomy, chromosome 1, congenital insensitivity to pain with anhidrosis, hereditary sensory and autonomic neuropathy type IV, nerve growth factor, NGF, nerve growth factor receptor, receptor tyrosine kinase for NGF, TRKA gene, NTRK1 gene, 片親性ダイソミー, １番染色体, 先天性無痛無汗症, 遺伝性感覚自律神経性ニューロパシー IV 型, 神経成長因子, 神経成長因子受容体, チロシンキナーゼ型神経成長因子受容体, TRKA 遺伝子, NTRK1 遺伝子 | |||||
| 資源タイプ | ||||||
| 資源タイプ | journal article | |||||
| 著者 |
三浦, 裕一
× 三浦, 裕一× Hiura, Makoto× Torigoe, Katsumi× Numata, Osamu× Kuwahara, Atsushi× Matsunaga, Masamichi× Hasegawa, Satoshi× Boku, Naoki× Ino, Haruyoshi× Mardy, Sek× Endo, Fumio× 松田, 一郎× Indo, Yasuhiro |
|||||
| 別言語の著者 |
犬童, 康弘
× 犬童, 康弘 |
|||||
| 内容記述 | ||||||
| 内容記述 | Uniparental disomy (UPD) is defined as the presence of a chromosome pair that derives from only one parent in a diploid individual. The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). We report here the second case of paternal UPD for chromosome 1 in a male patient with CIPA who developed normally at term and did not show overt dysmorphisms or malformations. He had only the usual features of CIPA with a homozygous mutation at the TRKA locus and a normal karyotype with no visible deletions or evidence of monosomy 1. Haplotype analysis of the TRKA locus and allelotype analyses of whole chromosome 1 revealed that the chromosome pair was exclusively derived from his father. Non-maternity was excluded by analyses of autosomes other than chromosome 1. Thus, we have identified a complete paternal isodisomy for chromosome 1 as the cause of reduction to homozygosity of the TRKA gene mutation, leading to CIPA. Our findings further support the idea that there are no paternally imprinted genes on chromosome 1 with a major effect on phenotype. UPD must be considered as a rare but possible cause of autosomal recessive disorders when conducting genetic testing. | |||||
| 書誌情報 |
Human Genetics 巻 107, 号 3, p. 205-209, 発行年 2000-09 |
|||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA0066617X | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 関連識別子 | 10.1007/s004390000369 | |||||
| 情報源(ISSN) | ||||||
| 関連名称 | 03406717 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 形態 | ||||||
| 335879 bytes | ||||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 日本十進分類法 | ||||||
| 主題Scheme | NDC | |||||
| 主題 | 493.937 | |||||
| 出版者 | ||||||
| 出版者 | Springer | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 論文(Article) | |||||
| 資源タイプ・ローカル | ||||||
| 雑誌掲載論文 | ||||||
| 資源タイプ・NII | ||||||
| Journal Article | ||||||
| 資源タイプ・DCMI | ||||||
| text | ||||||
| 資源タイプ・ローカル表示コード | ||||||
| 01 | ||||||
| 著作の一部 | ||||||
| 関連名称 | http://www.springerlink.com/content/100421/ | |||||
| コメント | ||||||
| The original publication is available at www.springerlink.com | ||||||
