OBJECTIVE: To analyze the molecular etiology of a Chinese child affected with dihydropyrimidinase deficiency. METHODS: Genomic DNA was extracted from peripheral blood samples of the family members. Pathogenic variant was determined by whole exome sequencing and verified by Sanger sequencing. RESULTS: The child was found to harbor homozygous c.905G>A (p.Arg302Gln) variants in exon 5 of the DPYS gene, for which her parents were both heterozygous carriers. CONCLUSION The homozygous c.905G>A (p.Arg302Gln) variants of the DPYS gene probably underlies the dihydropyrimidinase deficiency in the child. Above result has enabled genetic counseling and prenatal diagnosis for this family.
Amidohydrolases/genetics* ; Asian Continental Ancestry Group/genetics* ; Child ; Exons ; Female ; Humans ; Metabolism, Inborn Errors/genetics* ; Mutation ; Pedigree

To construct monoclonal antibodies against Haemonchus contortus native H11 protein.In this study,five 4-6 weeks female BALB/c mice were immunized with native H11 protein extrac-ted from adult worms by Concanavalin A lectin.Spleen cells were isolated and fused with SP2/0 cells after 3 times of immunization.Two hybridoma cell lines,named A1E3 and A10E1,which could stably secrete monoclonal antibodies against H11 protein were obtained.The subtype identi-fication and immunological analysis showed that the heavy chain of the two monoclonal antibodies belonged to IgG1 and the light chain was κ type,and both monoclonal antibodies recognized the natural antigen H11.Immunohistochemical localization and larval developmental inhibition test in vitro showed that the mAb A1E3 could be localized to the intestinal microvilli of the adult worm,and that the antibody can inhibit the growth of the fourth-stage larvae.The successful production of two monoclonal antibodies not only lays the foundation for the study of protective antigenic epitopes of the H11 protein and the development of epitope vaccines,but also provides a potential application of the monoclonal antibody for the treatment of haemonchusis in animals.