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
in Chinese
| WPRIM
| ID: wpr-237216
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
Molecular Sequence Data
/
Base Sequence
/
Introns
/
China
/
Exons
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Infant, Newborn
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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