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Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females

O'Neill, P ; Trombley, L ; Gundel, M ; Hunter, T ; Nicklas, J A ; Ferreira, M L ; Bugallo, M J ; Farias, A C ; Lohr, A ; Diamantopoulos, M ; Raskin, S

Arquivos de neuro-psiquiatria, 1999-12, Vol.57 (4), p.907-911 [Periódico revisado por pares]

Brazil: Academia Brasileira de Neurologia - ABNEURO

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Título:
Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females
Autor: O'Neill, P ; Trombley, L ; Gundel, M ; Hunter, T ; Nicklas, J A ; Ferreira, M L ; Bugallo, M J ; Farias, A C ; Lohr, A ; Diamantopoulos, M ; Raskin, S
Assuntos: Adolescent ; Adult ; Brazil ; Child ; DNA ; DNA, Complementary - analysis ; Female ; Heterozygote ; HPRT ; Humans ; Hypoxanthine Phosphoribosyltransferase - genetics ; Lesch-Nyhan syndrome ; Lesch-Nyhan Syndrome - diagnosis ; Lesch-Nyhan Syndrome - genetics ; Male ; NEUROSCIENCES ; Pedigree ; Point Mutation ; PSYCHIATRY ; Sex Factors
É parte de: Arquivos de neuro-psiquiatria, 1999-12, Vol.57 (4), p.907-911
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: 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 HPRTBrasil.
Editor: Brazil: Academia Brasileira de Neurologia - ABNEURO
Idioma: Inglês;Português

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Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females

O'Neill, P ; Trombley, L ; Gundel, M ; Hunter, T ; Nicklas, J A ; Ferreira, M L ; Bugallo, M J ; Farias, A C ; Lohr, A ; Diamantopoulos, M ; Raskin, S

Brazil: Academia Brasileira de Neurologia - ABNEURO

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