caa a22 4500 467984697 CHVBK 20180323112528.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276334 doi (NATIONALLICENCE)springer-10.1007/BF00276334 Molecular analyses of a Lesch-Nyhan syndrome mutation ( hprt Montreal) by use of T-lymphocyte cultures [Elektronische Daten] [Thomas Skopek, Leslie Recio, Deborah Simpson, Louis Dallaire, Serge Melancon, Helene Ogier, J. O'Neill, Michael Falta, Janice Nicklas, Richard Albertini] Summary: The frequency of hprt mutants in peripheral blood T-lymphocytes of two putative Lesch-Nyhan individuals and their parents was determined by a cell cloning assay to quantify the frequency of thioguanine-resistant mutants. The results confirmed the Lesch-Nyhan diagnosis and demonstrated that the mother has an elevated mutant frequency consistent with being heterozygous for an hprt mutation. Mass cultures of T-lymphocytes from both the children and their mother, as well as cultures of hprt mutant clones from the mother, were employed as sources of mRNA for cDNA sequence analysis. These hprt mutants show a single base substitution (T→C transition) at position 170 (exon 3). The predicted amino acid change is the substitution of threonine for methionine56. We have designated this new Lesch-Nyhan mutation hprt Montreal. The use of T-lymphocyte cultures allows rapid sequence analyses of hprt mutations, as well as family studies to define the origin of a particular mutation. Springer-Verlag, 1990 Skopek Thomas Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut Recio Leslie Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut Simpson Deborah Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut Dallaire Louis Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut Melancon Serge Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut Ogier Helene Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut O'Neill J. Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut Falta Michael Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut Nicklas Janice Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut Albertini Richard Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut Human Genetics Springer-Verlag 85/1(1990-06-01), 111-116 0340-6717 85:1<111 1990 85 439 https://doi.org/10.1007/BF00276334 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276334 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Skopek Thomas Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut NATIONALLICENCE 700 1- Recio Leslie Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut NATIONALLICENCE 700 1- Simpson Deborah Chemical Industry Institute of Toxicology, Research Triangle Park, 27709, NC, USA aut NATIONALLICENCE 700 1- Dallaire Louis Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Melancon Serge Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- Ogier Helene Hôpital Sainte Justine, H3T 1C5, Montreal, Quebec, Canada aut NATIONALLICENCE 700 1- O'Neill J. Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut NATIONALLICENCE 700 1- Falta Michael Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut NATIONALLICENCE 700 1- Nicklas Janice Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut NATIONALLICENCE 700 1- Albertini Richard Genetics Laboratory, University of Vermont, 32 North Prospect Street, 05401, Burlington, VT, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 111-116 0340-6717 85:1<111 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer