دورية أكاديمية
Rapid detection of PAH gene mutations in Chinese people
| العنوان: | Rapid detection of PAH gene mutations in Chinese people |
|---|---|
| المؤلفون: | Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang |
| المصدر: | BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019) |
| بيانات النشر: | BMC, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Phenylketonuria, Gene mutation, Single-tube multiplex PCR reaction, Reverse dot blot, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1471-2350 |
| Relation: | http://link.springer.com/article/10.1186/s12881-019-0860-5; https://doaj.org/toc/1471-2350 |
| DOI: | 10.1186/s12881-019-0860-5 |
| URL الوصول: | https://doaj.org/article/2ca26fbee9a24b4cbc900bed1e250254 |
| رقم الأكسشن: | edsdoj.2ca26fbee9a24b4cbc900bed1e250254 |
| قاعدة البيانات: | Directory of Open Access Journals |
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