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A prevalent mutation for galactosemia among black Americans.
Lai, K; Langley, S D; Singh, R H; Dembure, P P; Hjelm, L N; Elsas, L J.
Afiliação
  • Lai K; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.
J Pediatr ; 128(1): 89-95, 1996 Jan.
Article em En | MEDLINE | ID: mdl-8551426
OBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome. METHODS: We discovered a mutation caused by a C-->T transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen populations for its prevalence. We compared galactose-1-phosphate uridyltransferase among erythrocytes, leukocytes, and transformed lymphoblasts, as well as total body oxidation of D-(13C)-galactose to 13CO2 among three genotypes for GALT (S135L/S135L, Q188R/Q188R, and Normal/Normal). RESULTS: We found a 48% prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1% prevalence in a population of 50 black Americans without galactosemia. The S135L mutation was not found in 84 white patients with G/G galactosemia nor in 87 white control subjects without galactosemia. We found normal whole body oxidation of D-(13C)-galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues. CONCLUSIONS: The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. Because GALT activity varies in different tissues of patients homozygous for S135L, they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy.
Assuntos
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Bases de dados: MEDLINE Assunto principal: UTP-Hexose-1-Fosfato Uridililtransferase / Mutação Puntual / População Negra / Galactosemias Tipo de estudo: Prevalence_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 1996 Tipo de documento: Article País de afiliação: Estados Unidos
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Bases de dados: MEDLINE Assunto principal: UTP-Hexose-1-Fosfato Uridililtransferase / Mutação Puntual / População Negra / Galactosemias Tipo de estudo: Prevalence_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 1996 Tipo de documento: Article País de afiliação: Estados Unidos