Rapid detection of PAH gene mutations in Chinese people.
BMC Med Genet
; 20(1): 135, 2019 08 05.
Article
em En
| MEDLINE
| ID: mdl-31382905
ABSTRACT
BACKGROUND:
Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosine, leading to a large amount of phenylalanine discharged from the urine. Therefore, it is necessary to establish a simple, fast, accurate and reliable PKU molecular diagnostic method for clinical diagnosis.METHODS:
We established a novel diagnostic method by combining a single-tube multiplex PCR technique with molecular hybridization technique. The method was verified by DNA sequencing technology. The established new technology successfully detected 9 common PAH gene mutations in the Chinese population.RESULTS:
Double-blind analysis indicated that the diagnostic accuracy and specificity of the PKU sample were all 100%. Frequencies of single mutation R111X, R176X, Ex6-96A, R241C, R243Q, R252Q, Y356X, V399 V and R413P genotypes were 8, 0.5, 16.5, 1.5, 27, 4.5, 13, 10.5, 8.5% respectively.CONCLUSIONS:
The established method of combing single-tube multiplex PCR with molecular hybridization technology can accurately and rapidly detect PAH gene mutations in Chinese and is suitable for screening of large PKU populations with clinical samples.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Fenilalanina Hidroxilase
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Fenilcetonúrias
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Predisposição Genética para Doença
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Povo Asiático
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Estudos de Associação Genética
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Mutação
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article