A NEW SILENT MUTATION FOUND IN THE CHINESE PAH LOCUS AND ITS ROLE IN THE PRENATAL-DIAGNOSIS OF PHENYLKETONURIA

作者：HUANG SZ^*; ZHOU XD; REN ZR; ZENG YT; WOO SLC

来源：Science in China, Series B: Chemistry , 1991, 34(5): 606-610.

• PHENYLKETONURIA
• PHENYLALANINE HYDROXYLASE (PAH)
• DNA SEQUENCE
• POLYMORPHISM
• PRENATAL DIAGNOSIS
• SILENT MUTATION
• POLYMERASE CHAIN REACTION (PCR)
• ALLELE-SPECIFIC OLIGONUCLEOTIDE (ASO) PROBE
• CHINESE

A silent mutation or sequence polymorphism, A to T substitution at codon 399 in exon 11 of the PAH gene from a Chinese PKU patient, was found by sequence analysis. The frequencies of this new mutation in normal abnormal (PKU) genes were 0.005 and 0.09, respectively, based on the analyses of 100 normal individuals and 39 PKU patients using DNA amplification with polymerase chain reaction (PCR) and oligonucleotide hybridization methods. This silent mutation can be used as a "genetic marker" for PKU prenatal diagnosis. Recently, a fetus at risk for PKU, who could not be completely predicted by RFLPs linkage analysis, was prenatally diagnosed with this genetic marker.

• 出版日期1991-5
• 单位河北医科大学