Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
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 t...
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| Language: | English |
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Thieme Revinter Publicações
1999-12-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001&tlng=en |
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| author | PATRICK O'NEILL LUCY TROMBLEY MARY GUNDEL TIMOTHY HUNTER JANICE A. NICKLAS MARA LUCIA S. FERREIRA MARIA JULIA BUGALLO ANTÔNIO CARLOS FARIAS ALFREDO LOHR MERI DIAMANTOPOULOS SALMO RASKIN |
| author_facet | PATRICK O'NEILL LUCY TROMBLEY MARY GUNDEL TIMOTHY HUNTER JANICE A. NICKLAS MARA LUCIA S. FERREIRA MARIA JULIA BUGALLO ANTÔNIO CARLOS FARIAS ALFREDO LOHR MERI DIAMANTOPOULOS SALMO RASKIN |
| author_sort | PATRICK O'NEILL |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-d6d2f52759fd4dcab0ca9fed9d6c8d85 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 1999-12-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-d6d2f52759fd4dcab0ca9fed9d6c8d852025-08-20T02:04:01ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42271999-12-0157490791110.1590/S0004-282X1999000600001Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous femalesPATRICK O'NEILL0LUCY TROMBLEY1MARY GUNDEL2TIMOTHY HUNTER3JANICE A. NICKLAS4MARA LUCIA S. FERREIRA5MARIA JULIA BUGALLO6ANTÔNIO CARLOS FARIAS7ALFREDO LOHR8MERI DIAMANTOPOULOS9SALMO RASKIN10University of VermontUniversity of VermontUniversity of VermontUniversity of VermontUniversity of VermontHospital Pequeno PríncipeHospital Pequeno PríncipeHospital Pequeno PríncipeHospital Pequeno PríncipeHospital Pequeno PríncipeHospital Pequeno PríncipeThe 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001&tlng=enLesch-Nyhan syndromeDNAHPRT |
| spellingShingle | PATRICK O'NEILL LUCY TROMBLEY MARY GUNDEL TIMOTHY HUNTER JANICE A. NICKLAS MARA LUCIA S. FERREIRA MARIA JULIA BUGALLO ANTÔNIO CARLOS FARIAS ALFREDO LOHR MERI DIAMANTOPOULOS SALMO RASKIN Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females Arquivos de Neuro-Psiquiatria Lesch-Nyhan syndrome DNA HPRT |
| title | 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_short | 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 |
| topic | Lesch-Nyhan syndrome DNA HPRT |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600001&tlng=en |
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