Report of VNTR with 13 repeats linked to phenylalanine hydroxylase locus in unaffected members of two PKUfamilies
IBJ-Iranian Biomedical Journal. 2003; 7 (2): 89-90
en Inglés
| IMEMR
| ID: emr-62246
ABSTRACT
Phenylketonuria [PKU] is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase [PAH] gene. This gene is linked to a variable number of tandem repeats [VNTR] region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously was observed in 2 PKU families from Fars province, south of Iran. This allele showed 4% frequency in normal individuals
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Fenilalanina Hidroxilasa
/
Repeticiones de Minisatélite
/
Secuencias Repetidas en Tándem
Límite:
Humanos
Idioma:
Inglés
Revista:
Iran. Biomed. J.
Año:
2003
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