@article{oai:kumadai.repo.nii.ac.jp:00021617,
 author = {Indo, Yasuhiro and 犬童, 康弘 and 三浦, 裕一 and Miura, Yuichi and Hiura, Makoto and Torigoe, Katsumi and Numata, Osamu and Kuwahara, Atsushi and Matsunaga, Masamichi and Hasegawa, Satoshi and Boku, Naoki and Ino, Haruyoshi and Mardy, Sek and Endo, Fumio and 松田, 一郎 and Matsuda, Ichiro and Indo, Yasuhiro},
 issue = {3},
 journal = {Human Genetics},
 month = {Sep},
 note = {application/pdf, 論文(Article), 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.},
 pages = {205--209},
 title = {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},
 volume = {107},
 year = {2000},
 yomi = {インドウ, ヤスヒロ and ミウラ, ユウイチ and マツダ, イチロウ}
}