Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001 |
Resumo: | The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry the mutation. DNA sequencing revealed that the boys' mother is heterozygous for the mutation in her somatic cells, but that three maternal aunts are not heterozygous. Such carrier information is important for the future pregnancy plans of at-risk females. The mutation, an A-->T transversion at cDNA base 590 (590A-->T), results in an amino acid change of glutamic acid to valine at codon 197, and has not been reported previously in a Lesch-Nyhan syndrome male. This mutation is designated HPRT Brasil. |
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Arquivos de neuro-psiquiatria (Online) |
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Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous femalesLesch-Nyhan syndromeDNAHPRTThe mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry the mutation. DNA sequencing revealed that the boys' mother is heterozygous for the mutation in her somatic cells, but that three maternal aunts are not heterozygous. Such carrier information is important for the future pregnancy plans of at-risk females. The mutation, an A-->T transversion at cDNA base 590 (590A-->T), results in an amino acid change of glutamic acid to valine at codon 197, and has not been reported previously in a Lesch-Nyhan syndrome male. This mutation is designated HPRT Brasil.Academia Brasileira de Neurologia - ABNEURO1999-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001Arquivos de Neuro-Psiquiatria v.57 n.4 1999reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1999000600001info:eu-repo/semantics/openAccessO'NEILL,PATRICKTROMBLEY,LUCYGUNDEL,MARYHUNTER,TIMOTHYNICKLAS,JANICE A.FERREIRA,MARA LUCIA S.BUGALLO,MARIA JULIAFARIAS,ANTÔNIO CARLOSLOHR,ALFREDODIAMANTOPOULOS,MERIRASKIN,SALMOeng2000-04-18T00:00:00Zoai:scielo:S0004-282X1999000600001Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2000-04-18T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
title |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
spellingShingle |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females O'NEILL,PATRICK Lesch-Nyhan syndrome DNA HPRT |
title_short |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
title_full |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
title_fullStr |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
title_full_unstemmed |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
title_sort |
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females |
author |
O'NEILL,PATRICK |
author_facet |
O'NEILL,PATRICK TROMBLEY,LUCY GUNDEL,MARY HUNTER,TIMOTHY NICKLAS,JANICE A. FERREIRA,MARA LUCIA S. BUGALLO,MARIA JULIA FARIAS,ANTÔNIO CARLOS LOHR,ALFREDO DIAMANTOPOULOS,MERI RASKIN,SALMO |
author_role |
author |
author2 |
TROMBLEY,LUCY GUNDEL,MARY HUNTER,TIMOTHY NICKLAS,JANICE A. FERREIRA,MARA LUCIA S. BUGALLO,MARIA JULIA FARIAS,ANTÔNIO CARLOS LOHR,ALFREDO DIAMANTOPOULOS,MERI RASKIN,SALMO |
author2_role |
author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
O'NEILL,PATRICK TROMBLEY,LUCY GUNDEL,MARY HUNTER,TIMOTHY NICKLAS,JANICE A. FERREIRA,MARA LUCIA S. BUGALLO,MARIA JULIA FARIAS,ANTÔNIO CARLOS LOHR,ALFREDO DIAMANTOPOULOS,MERI RASKIN,SALMO |
dc.subject.por.fl_str_mv |
Lesch-Nyhan syndrome DNA HPRT |
topic |
Lesch-Nyhan syndrome DNA HPRT |
description |
The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were also studied to determine whether they carry the mutation. DNA sequencing revealed that the boys' mother is heterozygous for the mutation in her somatic cells, but that three maternal aunts are not heterozygous. Such carrier information is important for the future pregnancy plans of at-risk females. The mutation, an A-->T transversion at cDNA base 590 (590A-->T), results in an amino acid change of glutamic acid to valine at codon 197, and has not been reported previously in a Lesch-Nyhan syndrome male. This mutation is designated HPRT Brasil. |
publishDate |
1999 |
dc.date.none.fl_str_mv |
1999-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X1999000600001 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.57 n.4 1999 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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