Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria
Fang, B.; Yuan, L.; Wang, M.; Huang, S.; Wang, T.; Miao, S.; Ye, J.; Sun, N.; Lo, H.; Savio, L.C.
Chinese Medical Sciences Journal 7(4): 205-208
1992
ISSN/ISBN: 1001-9294 PMID: 1307495 Document Number: 396207
The known mutant alleles of the human phenylalanine hydroxylase (PAN) gene were analyzed in 25 phenylketonuria (PKU) families from North China by using polymerase chain reaction and allele-specific oligonucleotide dot blot hybridization techniques. The results showed that the six mutations analyzed accounted for 62% of all PKU genes. The three most frequent mutations were R243Q, R413P and Y204C. Seven prenatal gene diagnoses were carried out in 6 PKU families and were confirmed after birth or by examination of aborted materials.