Prenatal diagnosis of phenylketonuria.
Artículo
en Inglés
| IMSEAR
| ID: sea-24512
ABSTRACT
We report prenatal diagnosis of phenylketonuria by linkage analysis of the markers linked to the phenylalanine hydroxylase (PAH) gene. Three markers comprising STR (TCTAT)n in intron 3, VNTR (30bp long cassette) in the 3' UTR and Xmn1 RFLP were ascertained in the affected child, the parents and the chorionic villi sample. The foetus was confirmed to be heterozygous for the mutant allele. The diagnosis that the foetus was unaffected was confirmed by biochemical tests in the newborn.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Fenilalanina Hidroxilasa
/
Fenilcetonurias
/
Diagnóstico Prenatal
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Humanos
/
Marcadores Genéticos
/
Repeticiones de Minisatélite
/
Electroforesis en Gel de Agar
/
Ligamiento Genético
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Año:
2005
Tipo del documento:
Artículo
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