Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 513-517, 2013.
Article
en Zh
| WPRIM
| ID: wpr-237216
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia from Jiangsu province by DNA sequencing, and to analyze the spectrum of PAH gene mutations.</p><p><b>METHODS</b>A total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing.</p><p><b>RESULTS</b>Forty five types of mutations were identified, which included 4 novel mutations (L37P, H107R, Q267L, S391T). A total of 125 mutations were identified in 140 alleles (89.3%). All mutations were detected in exons 2-3, 5-7, 9-12 and introns 2, 4, 7 and 8. Most mutations were found in exons 6, 7 and 12. EX6-96A > G, R243Q and R241C were the most common mutations.</p><p><b>CONCLUSION</b>The mutational spectrum of Jiangsu province seems to be different from other regions. The spectrum can offer reliable information for genetic diagnosis of patients with hyperphenylalaninemia.</p>
Texto completo:
1
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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Intrones
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China
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Exones
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Genética
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Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
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Female
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Humans
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Male
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Newborn
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2013
Tipo del documento:
Article