PCR-based allelic discrimination for glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ugandan umbilical cord blood
| Autor: | Derrik Bengo, Susan Ndidde, Troy C. Lund, Deanna Fink, Jennifer Hsu, Michelle Carter, Tina M. Slusher, Julie A. Ross, Erica Langer |
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| Rok vydání: | 2013 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Genotype Genotyping Techniques Population Mutation Missense Glycogen Storage Disease Type I Real-Time Polymerase Chain Reaction Umbilical cord Polymorphism Single Nucleotide Article chemistry.chemical_compound Neonatal Screening Gene Frequency hemic and lymphatic diseases parasitic diseases Medicine Glucose-6-phosphate dehydrogenase Humans Uganda education Allele frequency Developing Countries Alleles education.field_of_study business.industry Incidence Infant Newborn nutritional and metabolic diseases Hematology medicine.disease Fetal Blood Hemolysis medicine.anatomical_structure Oncology chemistry Pediatrics Perinatology and Child Health Immunology Kernicterus Female Hemoglobin business Variants of PCR |
| Zdroj: | Pediatric hematology and oncology. 31(1) |
| ISSN: | 1521-0669 |
| Popis: | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked disorder in the world. G6PD deficiency puts children at risk for hyperbilirubinemia and kernicterus during the newborn period and an increased risk of severe hemolysis after exposure to many antimalarial medications. A laboratory diagnosis of G6PD deficiency is rare in the developing world due to limited resources. We developed a TaqMan-based allele-specific assay to rapidly determine rates of G6PD deficiency contributing alleles (G202A and A376G) in East Africa. We tested umbilical cord blood from 100 Ugandan newborns and found that the overall allele frequency of G202A was .13 and A376G was .32. The overall incidence of G6PD A- (G202A/A376G) was 6%; all A- variants were males. There was no correlation between G6PD deficiency and umbilical cord blood hemoglobin, white blood count, platelet count, or other hematologic parameters. Allele-specific PCR can serve as a rapid method to determine specific G6PD deficiency allele frequencies in a given population and as a diagnostic tool in a hospital setting in which laboratory resources are present. |
| Databáze: | OpenAIRE |
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