دورية أكاديمية
أعرض في EDS

Bead-based assays to simultaneously detect multiple human inherited blood disorders associated with malaria.

التفاصيل البيبلوغرافية
العنوان: Bead-based assays to simultaneously detect multiple human inherited blood disorders associated with malaria.
المؤلفون: Grignard L; Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK. lynn.grignard@lshtm.ac.uk., Mair C; Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK., Curry J; LGC Genomics, Hoddesdon, Hertfordshire, UK., Mahey L; LGC Genomics, Hoddesdon, Hertfordshire, UK., Bastiaens GJH; Department of Medical Microbiology, Radboud University Medical Centre, Nijmegen, The Netherlands., Tiono AB; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Okebe J; Disease Control & Elimination Theme, Medical Research Council Unit at London School of Hygiene and Tropical Medicine, Fajara, The Gambia., Coulibaly SA; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Gonçalves BP; Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK., Affara M; Disease Control & Elimination Theme, Medical Research Council Unit at London School of Hygiene and Tropical Medicine, Fajara, The Gambia., Ouédraogo A; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Bougouma EC; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Sanou GS; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Nébié I; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., Lanke KHW; Department of Medical Microbiology, Radboud University Medical Centre, Nijmegen, The Netherlands., Sirima SB; Department of Biomedical Sciences, Centre National de Recherche et de Formation sur le Paludisme, Ouagadougou, Burkina Faso., d'Alessandro U; Disease Control & Elimination Theme, Medical Research Council Unit at London School of Hygiene and Tropical Medicine, Fajara, The Gambia.; Department of Disease Control, London School of Hygiene and Tropical Medicine, London, UK., Clark TG; Department of Pathogen Molecular Biology, London School of Hygiene and Tropical Medicine, London, UK.; Department of Infectious Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK., Campino S; Department of Pathogen Molecular Biology, London School of Hygiene and Tropical Medicine, London, UK., Bousema T; Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK.; Department of Medical Microbiology, Radboud University Medical Centre, Nijmegen, The Netherlands., Drakeley C; Department of Immunology and Infection, London School of Hygiene & Tropical Medicine, London, UK.
المصدر: Malaria journal [Malar J] 2019 Jan 21; Vol. 18 (1), pp. 14. Date of Electronic Publication: 2019 Jan 21.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101139802 Publication Model: Electronic Cited Medium: Internet ISSN: 1475-2875 (Electronic) Linking ISSN: 14752875 NLM ISO Abbreviation: Malar J Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2002-
مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, Anemia, Sickle Cell/*diagnosis , Genotyping Techniques/*methods , Glucosephosphate Dehydrogenase Deficiency/*diagnosis , Hemoglobin C Disease/*diagnosis, Adolescent ; Adult ; Burkina Faso ; Child ; Glucosephosphate Dehydrogenase/genetics ; Hemoglobin C/genetics ; Hemoglobin, Sickle/genetics ; Humans ; Malaria/complications ; Male ; Middle Aged ; Young Adult
مستخلص: Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDd), haemoglobin C (HbC) and S (HbS) are inherited blood disorders (IBD) common in populations in malaria endemic areas. All are associated to some degree with protection against clinical malaria whilst additionally G6PDd is associated with haemolysis following treatment with 8-aminoquinolines. Measuring the prevalence of these inherited blood disorders in affected populations can improve understanding of disease epidemiology. Current methodologies in epidemiological studies commonly rely on individual target amplification and visualization; here a method is presented to simultaneously detect the polymorphisms and that can be expanded to include other single nucleotide polymorphisms (SNPs) of interest.
Methods: Human DNA from whole blood samples was amplified in a novel, multiplex PCR reaction and extended with SNP-specific probes in an allele specific primer extension (ASPE) to simultaneously detect four epidemiologically important human markers including G6PD SNPs (G202A and A376G) and common haemoglobin mutations (HbS and HbC). The products were hybridized to magnetic beads and the median fluorescence intensity (MFI) was read on MAGPIX ® (Luminex corp.). Genotyping data was compared to phenotypical data generated by flow cytometry and to established genotyping methods.
Results: Seventy-five samples from Burkina Faso (n = 75/78, 96.2%) and 58 samples from The Gambia (n = 58/61, 95.1%) had a G6PD and a HBB genotype successfully assigned by the bead-based assay. Flow cytometry data available for n = 61 samples further supported the concordance between % G6PD normal/deficient cells and genotype.
Conclusions: The bead based assay compares well to alternative measures of genotyping and phenotyping for G6PD. The screening is high throughput, adaptable to inclusion of multiple targets of interest and easily standardized.
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معلومات مُعتمدة: MC_UP_A900_1119 United Kingdom MRC_ Medical Research Council; OPP1034789 United States GATES Bill & Melinda Gates Foundation; United Kingdom WT_ Wellcome Trust; MC_EX_MR/K007203/1 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Keywords: Glucose-6-phosphate dehydrogenase deficiency; Haemoglobin C; Haemoglobin S; Malaria; Multiplex detection
المشرفين على المادة: 0 (Hemoglobin, Sickle)
9008-00-8 (Hemoglobin C)
EC 1.1.1.49 (G6PD protein, human)
EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
تواريخ الأحداث: Date Created: 20190123 Date Completed: 20190207 Latest Revision: 20240408
رمز التحديث: 20240408
مُعرف محوري في PubMed: PMC6341711
DOI: 10.1186/s12936-019-2648-7
PMID: 30665411
قاعدة البيانات: MEDLINE
الوصف
تدمد:1475-2875
DOI:10.1186/s12936-019-2648-7