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Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1241-1243, 2020.
Article Dans Chinois | WPRIM | ID: wpr-879475
ABSTRACT
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.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Pedigree / Exons / Asiatiques / Amidohydrolases / Erreurs innées du métabolisme / Mutation Limites du sujet: Enfant / Femelle / Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2020 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Pedigree / Exons / Asiatiques / Amidohydrolases / Erreurs innées du métabolisme / Mutation Limites du sujet: Enfant / Femelle / Humains langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2020 Type: Article