A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

Wang, X; Poh-Fitzpatrick, M; Carriero, D; Ostasiewicz, L; Chen, T; Taketani, S; Piomelli, S

Wang, X; Poh-Fitzpatrick, M; Carriero, D; Ostasiewicz, L; Chen, T; Taketani, S; Piomelli, S.

Afiliação

Wang X; Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032.

Biochim Biophys Acta ; 1181(2): 198-200, 1993 Apr 30.

Article em En | MEDLINE | ID: mdl-8481408

ABSTRACT

ABSTRACT

An aberrant ferrochelatase mRNA lacking exon 10 was found in a patient with erythropoietic protoporphyria (EPP). In her genomic DNA an A-->T transversion at position -3 of the donor site of intron 10 appeared to be responsible for the exon skipping. Both the patient and her sister were heterozygous for this mutation.

Assuntos

Ferroquelatase/genética; Porfiria Eritropoética/genética; Splicing de RNA; Idoso; Sequência de Bases; Éxons; Feminino; Deleção de Genes; Heterozigoto; Humanos; Dados de Sequência Molecular; Mutação; Reação em Cadeia da Polimerase; Porfiria Eritropoética/diagnóstico; RNA Mensageiro/análise

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Base de dados: MEDLINE Assunto principal: Splicing de RNA / Porfiria Eritropoética / Ferroquelatase Tipo de estudo: Diagnostic_studies Limite: Aged / Female / Humans Idioma: En Ano de publicação: 1993 Tipo de documento: Article

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