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
en Zh
| WPRIM
| ID: wpr-239516
Biblioteca responsable:
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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Índice:
WPRIM
Asunto principal:
Fenilalanina Hidroxilasa
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Fenilcetonurias
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Datos de Secuencia Molecular
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Secuencia de Bases
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China
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Pueblo Asiatico
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Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
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/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Article