Rapid detection of PAH gene mutations in Chinese people

BMC Medical Genetics
Xin ZhangLing-Li Wang

Abstract

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.

References

Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R K SaikiH A Erlich
Mar 22, 2003·Expert Review of Molecular Diagnostics·Bert Gold
Mar 22, 2003·Molecular Genetics and Metabolism·Saskia BräutigamUrsula G Froster
May 12, 2010·Journal of Inherited Metabolic Disease·Jean-Louis Dhondt
Oct 26, 2010·Lancet·Nenad BlauHarvey L Levy

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Citations

Jul 19, 2020·International Journal of Molecular Sciences·Neha SarodayaSuresh Ramakrishna
Nov 10, 2020·Scandinavian Journal of Clinical and Laboratory Investigation·Zhendong ZhaoChaohui Fu
Mar 26, 2021·Journal of Agricultural and Food Chemistry·Jianqiang MiaoXili Liu

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Methods Mentioned

BETA
dot blot
PCR
genotyping
electrophoresis

Software Mentioned

Primer

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