Clinical application study on capillary electrophoresis-based gene diagnosis of hyperphenylalaninemia
10.3760/cma.j.cn101070-20230525-00415
- VernacularTitle:毛细管电泳用于高苯丙氨酸血症基因诊断的临床应用研究
- Author:
Jianxin TAN
1
;
Yun SUN
;
Binbin SHAO
;
Yanyun WANG
;
Yuguo WANG
;
Yan WANG
;
Jingjing ZHANG
;
Zhengfeng XU
Author Information
1. 南京医科大学附属妇产医院（南京市妇幼保健院）产前诊断中心，南京 210004
- Keywords:
Hyperphenylalaninemia;
Phenylalanine hydroxylase;
Capillary electrophoresis-based method;
Variants
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(2):94-97
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the clinical value of a capillary electrophoresis-based method for gene diagnosis of hyperphenylalaninemia.Methods:In this single-center prospective study, 40 newborns with suspected hyperphenylalaninemia detected by neonatal liquid chromatography-tandem mass spectrometry screening at Nanjing Maternity and Child Health Care Hospital from February 2021 to February 2023 were included, with 22 males, 18 females and a mean age at diagnosis of 21.93 days.Capillary electrophoresis was used to detect 85 variants of the phenylalanine hydroxylase ( PAH) gene in 40 newborns with suspected hyperphenylalaninemia.The PAH gene of undiagnosed patients was further analyzed by Sanger sequencing.The detection rate, sensitivity and specificity of capillary electrophoresis were calculated. Results:Among these 40 newborns with suspected hyperphenylalaninemia, 71 PAH variants were detected by capillary electrophoresis, 32 patients were clearly diagnosed, only 1 pathogenic variant was found in 5 patients, and no pathogenic variant was found in the last 3 patients.Therefore, the detection rate, sensitivity and specificity of capillary electrophoresis for analysis of the PAH gene were 80.00%, 88.75% and 100%, respectively. Conclusions:The capillary electrophoresis-based method can rapidly, efficiently and accurately detect PAH gene variants at lower cost and is a promising gene detection method for hyperphenylalaninemia in clinical practice.
