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Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria
Author(s) -
Romano Valentino,
Dianzani Irma,
Ponzone Alberto,
Zammarchi Enrico,
Eisensmith Randi,
Ceratto Nadia,
Bosco Paolo,
Indelicato Anna
Publication year - 1994
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970141011
Subject(s) - minisatellite , variable number tandem repeat , tandem repeat , prenatal diagnosis , genetics , polymerase chain reaction , phenylalanine hydroxylase , microsatellite , phenylalanine , phenylketonurias , fetus , intron , biology , medicine , gene , pregnancy , allele , amino acid , genome
A polymorphic short tandem repeat (STR) in intron 3 (Goltsov et al. , 1993) and a variable number of tandem repeats (Hind III‐VNTR) flanked by two constant Hind III sites (Goltsov et al. , 1992) have been recently identified in the human phenylalanine hydroxylase (PAH) gene. These polymorphisms are easily detected by the polymerase chain reaction (PCR) and gel electrophoresis. We report on the use of these two novel polymorphisms in three Italian families with pregnancies at risk for classical phenylketonuria (PKU). A carrier status for PKU was ascertained in two fetuses; the third family refused prenatal diagnosis, although informativeness was shown to be complete.