[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].

Article

[Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].

Zhonghua yi xue za zhi - 1 Nov 1992

Wang M

Abstract excerpt

The known mutant alleles of human phenylalanine hydroxylase gene were analyzed in 25 phenylketonuria (PKU) families from North China by polymerase chain reaction combined with allele-specific oligonucleotide dot hybridization techniques. The results showed that the six mutation accounted for 62%...

Topics

Alleles
DNA Mutational Analysis
Exons
Female
Fetal Diseases
Humans
Male
Pedigree
Phenylalanine Hydroxylase
Phenylketonurias
Point Mutation
Polymerase Chain Reaction
Pregnancy
Prenatal Diagnosis

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