Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA methodReport as inadecuate




Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method - Download this document for free, or read online. Document in PDF available to download.

Malaria Journal

, 4:61

First Online: 15 December 2005Received: 25 August 2005Accepted: 15 December 2005

Abstract

BackgroundMutations in the haemoglobin beta-globin HbB and glucose-6-phosphate dehydrogenase G6PD genes cause widespread human genetic disorders such as sickle cell diseases and G6PD deficiency. In sub-Saharan Africa, a few predominant polymorphic variants of each gene account for a majority of these deficiencies. Examining at a larger scale the clinical importance of these independent genetic disorders, their possible association with malaria pathogenesis and innate resistance, and their relevance for antimalarial drug treatment, would be easier if an accurate screening method with limited costs was available.

MethodsA simple and rapid technique was developed to detect the most prominent single nucleotide polymorphisms SNPs in the HbB and G6PD genes. The method is able to detect the different haemoglobin polymorphisms A, S, C and E, as well as G6PD polymorphisms B, A and A- based on PCR-amplification followed by a hybridization step using sequence-specific oligonucleotide probes SSOPs specific for the SNP variants and quantified by ELISA.

ResultsThe SSOP-ELISA method was found to be specific, and compared well to the commonly used PCR-RFLP technique. Identical results were obtained in 98% haemoglobin and 95% G6PD of the tested 90 field samples from a high-transmission area in Tanzania, which were used to validate the new technique.

ConclusionThe simplicity and accuracy of the new methodology makes it suitable for application in settings where resources are limited. It would serve as a valuable tool for research purposes by monitoring genotype frequencies in relation to disease epidemiology.

Electronic supplementary materialThe online version of this article doi:10.1186-1475-2875-4-61 contains supplementary material, which is available to authorized users.

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Author: Anders Enevold - Lasse S Vestergaard - John Lusingu - Chris J Drakeley - Martha M Lemnge - Thor G Theander - Ib C Bygb

Source: https://link.springer.com/



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