TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN

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TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN

Chinese Medical Sciences Journal Vol. 0, Issue 1, Pages: 22-25(1997)

Updated：2024-04-10

- TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN
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  CLC： R392.2
- Published：1997
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TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN[J]. Chinese medical sciences journal, 1997, 0(1): 22-25.
DOI：

TWO NOVEL MUTATIONS IN PHENYLALANINE HYDROXYLASE GENE AND IN VITRO EXPRESSION ANALYSIS ON MUTATION ARG252GLN[J]. Chinese medical sciences journal, 1997, 0(1): 22-25. DOI：

摘要

Abstract

We report novel mutations in exon 7 of human phenylalanine hydroxylase （PAH） gene of phenylketonuria （PKU ） in southern Chinese

analysed by using PCR-DGGE （denaturing gradient gel electrophoresis ）

solid phase DNA sequencing and Ih vliro expression. One of the 2 novel mutations

IVS6nt1

is an intron-exon Junctional mutation which results a splicing defect in mRNA. Arg252Gln is another novel mutation with residual PAH activity only 24 % compared to wild type in in vitro mutagenesis and expression in Cos-1 cell. Other 3 known mutations and polymorphism including Arg241Cys

Arg243Gln and Val245Val（GTG to GTA） together with these novel mutations composed the mutatlonal profile of exon 7 in the PAH gene of PKUs in this populations.

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