Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria. |
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Authors: | B Fang L Yuan M Wang S Huang T Wang S Miao J Ye N Sun H Lo L C Savio |
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Affiliation: | Institute of Basic Medical Sciences, CAMS, Beijing. |
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Abstract: | 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. |
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