Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 153-157, 2015.
Article
em Zh
| WPRIM
| ID: wpr-239516
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutations of phenylalanine hydroxylase (PAH) gene in 20 phenylketonuria (PKU) patients from Yunnan.</p><p><b>METHODS</b>The 13 exons and the splicing regions of 12 introns of the PAH gene were sequenced to detect mutations in 20 unrelated PKU patients.</p><p><b>RESULTS</b>PAH gene sequencing has revealed 15 types of mutations, in which the most frequently mutation was p.R243Q (30.0%), followed by p.Y356X(10.0%), p.R111X (7.5%), IVS4+2T>A (7.5%) and p.V399V (7.5%). Exons 7, 11, 3 and introns 4, 11 were most frequently involved. Six novel mutations, including c.59A>C, c.60G>C, c.690_691insG, c.1119_1120insT, c.441+2T>A, c.842+4A>T and c.1200+1T>G were detected.</p><p><b>CONCLUSION</b>PAH gene mutations identified in Yunnan are more similar to those of northern China, with R243R being the most common, though there are still certain characteristics for the type and frequency of mutations.</p>
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Base de dados:
WPRIM
Assunto principal:
Fenilalanina Hidroxilase
/
Fenilcetonúrias
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Dados de Sequência Molecular
/
Sequência de Bases
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China
/
Povo Asiático
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Genética
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Article