快速检测中国人中的 PAH 基因突变。
Rapid detection of PAH gene mutations in Chinese people.
机构信息
Mathematical Engineering Academy Of Chinese Medicine, Guangzhou University of Chinese Medicine, no. 232, Waihuandong Road, Guangzhou Higher Education Mega Center, Guangzhou, 510006, People's Republic of China.
Shenzhen Yilifang Biotech Co. Ltd, A high-tech incsubator in Shenzhen hi-tech Zone, 2-301, Shenzhen, People's Republic of China.
出版信息
BMC Med Genet. 2019 Aug 5;20(1):135. doi: 10.1186/s12881-019-0860-5.
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.
背景
苯丙酮尿症（PKU）是一种常染色体隐性遗传疾病，由代谢途径中苯丙氨酸羟化酶（PAH）缺乏引起，导致苯丙氨酸无法转化为酪氨酸，从而导致大量苯丙氨酸从尿液中排出。因此，有必要建立一种简单、快速、准确、可靠的 PKU 分子诊断方法用于临床诊断。
方法
我们通过单管多重 PCR 技术与分子杂交技术相结合建立了一种新的诊断方法。该方法通过 DNA 测序技术进行验证。所建立的新技术成功检测了中国人群中 9 种常见的 PAH 基因突变。
结果
双盲分析表明，PKU 样本的诊断准确性和特异性均为 100%。R111X、R176X、Ex6-96A、R241C、R243Q、R252Q、Y356X、V399V 和 R413P 单突变基因型的频率分别为 8%、0.5%、16.5%、1.5%、27%、4.5%、13%、10.5%和 8.5%。
结论
建立的单管多重 PCR 与分子杂交技术相结合的方法能够准确、快速地检测中国人的 PAH 基因突变，适用于临床样本中大规模 PKU 人群的筛查。
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