Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 142-146, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-326976
ABSTRACT
<p><b>OBJECTIVE</b>To study the characteristics of the phenylalanine hydroxylase gene (PAH) mutations in patients with phenylketonuria (PKU) in Henan province, in order to provide basic information for genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Mutations of the PAH gene were detected in exons 1-13 with flanking introns of PAH gene by PCR and DNA sequencing in 47 families with PKU.</p><p><b>RESULTS</b>A total of 25 different mutations were detected in 83 out of 94 PAH alleles (88.3%). Among them, E79fX13, H271R and D415Y have not been reported previously. It was the first time that IVS10-14C to G mutation was reported in Chinese PKU population. The mutations p.R243Q, EX6-96A to G, p.Y356X, IVS401G to A, p.R111X, p.V399V and p.R413P, were the prevalent mutations with relative frequencies of 20.5%, 12.0%, 9.6%, 9.6%, 8.4%, 8.4% and 7.2% respectively.</p><p><b>CONCLUSION</b>The mutations of the PAH gene in patients with classical phenylketonuria in Henan province were similar to that in other areas of China. Prenatal gene diagnosis for PKU by PAH gene sequencing is efficient for most PKU families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenilalanina Hidroxilase
/
Fenilcetonúrias
/
Diagnóstico Pré-Natal
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
China
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Diagnóstico
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo
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