[Analysis of DPYS gene variants in a child with dihydropyrimidase deficiency].

Objective: To explore the genetic basis for a child with dihydropyrimidase (DHP) deficiency.

Methods: High-throughput sequencing was carried out for the child. Suspected variants were verified by using Sanger sequencing.

[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].

OBJECTIVE To detect potential mutation in a Chinese family affected with beta-ureidopropinoase deficiency. METHODS Genomic DNA was extracted from peripheral blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing.

[Detection of the mutant phenylalanine hydroxylase gene by dideoxy fingerprinting].

Objective: To establish a method with high efficiency in detecting phenylalanine hydroxylase (PHA) gene mutations and hence to rapidly diagnose prenatal fetals with phenylketonuria.

Methods: Dideoxy fingerprinting (ddF) was used. It is a hybrid method of dideoxy sequencing and single strand conformation polymorphism (SSCP); it can effectively detect the presence of mutant genes and would not be limited by the length of the amplified products, by ddF, the mutant genes Y165X, Y204C and Q355H of PAH genes were detected.