First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation
Genet. mol. res. (Online)
;
6(2): 470-475, 2007. graf, ilus
Artigo
em Inglês
| LILACS
| ID: lil-482022
ABSTRACT
Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by assaying the enzyme activity in red cells. Chorionic villus sampling was performed in an 11-week gestation and the mutation was located in exon 10 of the PKLR gene characterized by polymerase chain reaction and using restriction endonuclease digestion with the MspI enzyme, which was confirmed by DNA sequencing on the ABI 310 DNA sequencer. Both the parents were heterozygous for the 1436G-->A [479 Arg-->His] mutation in exon 10 and the proband was homozygous for this mutation. The fetus was also heterozygous for this mutation and the pregnancy was continued. Prenatal diagnosis allowed the parents with a severely affected child with PK deficiency to have the reproductive choice of having the fetus tested in a subsequent pregnancy.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Diagnóstico Pré-Natal
/
Piruvato Quinase
/
Anemia Hemolítica Congênita não Esferocítica
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Índia
/
Japão
Instituição/País de afiliação:
Amrita Institute of Medical Sciences and Research Center/IN
/
K.E.M. Hospital Campus/IN
/
Kyushu Institute of Technology/JP
/
Tokyo Women's Medical University/JP
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