Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 63-5
Article
in English
| IMSEAR
| ID: sea-34310
ABSTRACT
Phenylketonuria (PKU) is one of the most common inborn errors of metabolic disorders. Although PKU induced mental retardation can be prevented after neonatal screening by following treatment with low phenylalanine diet, some parents are seeking prenatal diagnosis. We screened for mutations in exon 3 and 7 of the PAH gene using the DGGE and restriction enzyme method, in combination with STR linkage analysis. Prenatal diagnosis was carried out in 8 PKU families. With this strategy, we are able to make prenatal diagnosis in about 65-70% PKU families. All diagnosis was confirmed in the newborn.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
Prenatal Diagnosis
/
Polymorphism, Restriction Fragment Length
/
Humans
/
Infant, Newborn
/
China
/
Polymerase Chain Reaction
/
Prevalence
/
Neonatal Screening
Type of study:
Diagnostic study
/
Prevalence study
Country/Region as subject:
Asia
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
1999
Type:
Article
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