caa a22 4500 467984034 CHVBK 20180323112526.0 cr unu---uuuuu 170328e19900401xx s 000 0 eng 10.1007/BF00195826 doi (NATIONALLICENCE)springer-10.1007/BF00195826 Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese [Elektronische Daten] [Shin Fujimori, Naoyuki Kamatani, Yutaro Nishida, Nobuaki Ogasawara, Ieo Akaoka] Summary: A previously undescribed nucleotide substitution at codon 51 (CGA to TGA) has been identified using the polymerase chain reaction technique in hypoxanthine guanine phosphoribosyltransferase (HPRT) cDNA; this is the first molecular evidence for a point mutation in a Japanese patient with Lesch-Nyhan syndrome. The present mutation is the 19th nucleotide substitution identified as a germ-line mutation at this locus and the second mutation generating a stop codon. The position of the nucelotide substitution is exactly the same as a previously described mutation HPRTToronto, indicating for the first time that nucleotide substitutions at the same position in the sequence of HPRT can generate different mutant alleles, one causing a partial deficiency and the other a complete deficiency. Although the type of nucleotide substitution is different between the two cases, a single base position has twice become the target of a mutation. However, the calculation of the probability of finding substitution mutations at the same base position in the coding region of hprt indicates that there is no evidence for the presence of a hot spot for substitution mutations in the human hprt germ line. Springer-Verlag, 1990 Fujimori Shin Second Department of Internal Medicine, University of Teikyo, 2-11-1 Kaga Itabashi-ku, 173, Tokyo, Japan aut Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, Tokyo, Japan aut Nishida Yutaro Department of Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Tokyo, Japan aut Ogasawara Nobuaki Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony, Aichi, Japan aut Akaoka Ieo Second Department of Internal Medicine, University of Teikyo, 2-11-1 Kaga Itabashi-ku, 173, Tokyo, Japan aut Human Genetics Springer-Verlag 84/5(1990-04-01), 483-486 0340-6717 84:5<483 1990 84 439 https://doi.org/10.1007/BF00195826 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00195826 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fujimori Shin Second Department of Internal Medicine, University of Teikyo, 2-11-1 Kaga Itabashi-ku, 173, Tokyo, Japan aut NATIONALLICENCE 700 1- Kamatani Naoyuki Institute of Rheumatology, Tokyo Women's Medical College, Tokyo, Japan aut NATIONALLICENCE 700 1- Nishida Yutaro Department of Medicine and Physical Therapy, Faculty of Medicine, University of Tokyo, Tokyo, Japan aut NATIONALLICENCE 700 1- Ogasawara Nobuaki Department of Genetics, Institute for Developmental Research, Aichi Prefectural Colony, Aichi, Japan aut NATIONALLICENCE 700 1- Akaoka Ieo Second Department of Internal Medicine, University of Teikyo, 2-11-1 Kaga Itabashi-ku, 173, Tokyo, Japan aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/5(1990-04-01), 483-486 0340-6717 84:5<483 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer