Rapid detection of PAH gene mutations in Chinese people

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...

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Bibliographic Details
Published in:BMC medical genetics 2019-08, Vol.20 (1), p.135-135, Article 135
Main Authors: Zhang, Xin, Chen, Huan-Xin, Li, Chuan, Zhang, Gui, Liao, Sheng-Yun, Peng, Zhuo-Chun, Lai, Xiao-Ping, Wang, Ling-Li
Format: Article
Language:English
Subjects:
Amino acids
Asian Continental Ancestry Group - genetics
Base Sequence
DNA
DNA sequencing
Double-Blind Method
EDTA
Gene mutation
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease - genetics
Genotype
Genotypes
Humans
Hydroxylases
Molecular Diagnostic Techniques
Mutation
Novels
Phenols (Class of compounds)
Phenylalanine
Phenylalanine Hydroxylase - genetics
Phenylketonuria
Phenylketonurias - genetics
Physiological aspects
Reverse dot blot
Risk factors
Sequence Analysis, DNA
Single-tube multiplex PCR reaction
Technology
Tyrosine
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Summary: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. 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. 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. 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.
ISSN:1471-2350
1471-2350
DOI:10.1186/s12881-019-0860-5