MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE

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MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE

Chinese Medical Sciences Journal Vol. 0, Issue 3, Pages: 156-158(1997)

Updated：2024-04-10

- MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE
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  CLC： R392.2
- Published：1997
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MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. Chinese medical sciences journal, 1997, 0(3): 156-158.
DOI：

MUTATIONS IDENTIFIED IN EXON 7 OFPHENYLALANINE HYDROXYLASE GENE IN CHINESE[J]. Chinese medical sciences journal, 1997, 0(3): 156-158. DOI：

摘要

Abstract

Exon 7 of the l’henylalan1ne hydroxylase （PAH） gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla （PKU） from northern Chlna by uslng PCRxsingle strand conformation polymorphism（PCR-SSCP） technique and DNA direct sequencing. Six missense mutatlons （l. e. R2413Q. R 241H

G247V

2 19H

F2541;lnd G257V ）and one silent rnutatlon （V245v ） were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation （R241 H） was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.

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