Rapid detection of PAH gene mutations in Chinese people

Springer Science and Business Media LLC - Tập 20 - Trang 1-6 - 2019
Xin Zhang1, Huan-Xin Chen1, Chuan Li2, Gui Zhang2, Sheng-Yun Liao2, Zhuo-chun Peng3, Xiao-Ping Lai1, Ling-Li Wang1
1Mathematical Engineering Academy Of Chinese Medicine, Guangzhou University of Chinese Medicine, Guangzhou, People’s Republic of China
2Shenzhen Yilifang Biotech Co. Ltd, A high-tech incsubator in Shenzhen hi-tech Zone, Shenzhen, People’s Republic of China
3Cancercentrum Karolinska, Solna, Sweden

Tóm tắt

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.

Tài liệu tham khảo

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