Single tube allele specific PCR: a low cost technique for molecular screening of sickle cell anaemia in Nigeria

Background: Sickle cell anaemia (SCA) is a hereditary blood disorder caused by a single mutation in the haemoglobin gene. The disease burden of SCA is highest in Nigeria. The allele specific polymerase chain reaction (ASPCR) method is applicable for the direct detection of known single nucleotide polymorphisms (SNPs). Objective: To investigate the use of the single tube ASPCR as an accurate and affordable method for SCA screening in Nigeria. Methods: DNA was extracted from study subjects with normal haemoglobin, HbAA (20), sickle cell anaemia, HbSS (20) and carriers, HbAS (1). Haemoglobin was genotyped by ASPCR using two primer sets that amplifies the wildtype and mutant haemoglobins in each sample. Amplicon sizes were analyzed by gel electrophoresis. Results: Amplicons were visible after electrophoresis at regions 517 base pair (bp) for HbA and 267 bp for HbS. ASPCR correctly and unambiguously detected the presence or absence of haemoglobins A and S from all samples collected, demonstrating its accuracy and precision for the screening of SCA. Conclusion: This study validates ASPCR as an effective, low cost approach for the clinical screening of SCA in Nigeria. ASPCR is also applicable for other genetic diseases, paternity testing, and forensics where more expensive fluorescence-based approaches are not obtainable.Keywords: Sickle cell anaemia, polymerase chain reaction, molecular diagnostic techniques

Single tube allele specific PCR: a low cost technique for molecular screening of sickle cell anaemia in Nigeria

Background: Sickle cell anaemia (SCA) is a hereditary blood disorder caused by a single mutation in the haemoglobin gene. The disease burden of SCA is highest in Nigeria. The allele specific polymerase chain reaction (ASPCR) method is applicable for the direct detection of known single nucleotide polymorphisms (SNPs). Objective: To investigate the use of the single tube ASPCR as an accurate and affordable method for SCA screening in Nigeria. Methods: DNA was extracted from study subjects with normal haemoglobin, HbAA (20), sickle cell anaemia, HbSS (20) and carriers, HbAS (1). Haemoglobin was genotyped by ASPCR using two primer sets that amplifies the wildtype and mutant haemoglobins in each sample. Amplicon sizes were analyzed by gel electrophoresis. Results: Amplicons were visible after electrophoresis at regions 517 base pair (bp) for HbA and 267 bp for HbS. ASPCR correctly and unambiguously detected the presence or absence of haemoglobins A and S from all samples collected, demonstrating its accuracy and precision for the screening of SCA. Conclusion: This study validates ASPCR as an effective, low cost approach for the clinical screening of SCA in Nigeria. ASPCR is also applicable for other genetic diseases, paternity testing, and forensics where more expensive fluorescence-based approaches are not obtainable

First Nigerian Bioinformatics Conference (FNBC): Towards a dynamic bioinformatics community

The human genome project, which was completed in 2003, ushered in a new era of scientific applications in medicine and bioscience, and also enhanced the generation of high-throughput data which required laboratory and computational analytical approaches in fields known as genomics and bioinformatics respectively. Internationally, specific advances have been achieved which involved the formation and emergence of strong scientific communities to sustain these technological advancements. On the African continent and regionally, the Human Hereditary and Health in Africa (H3Africa), Biosciences eastern and central Africa - International Livestock Research Institute (BecA - ILRI) Hub, and the Alliance for Accelerated Crop Improvements in Africa (ACACIA), are helping to push some of these advances in human health, biosciences, and agriculture respectively. In Nigeria, we believe that significant advances have also been made by various groups since the human genome project was completed. However, a scientific gathering platform to sustainably enable scientists discuss and update these progresses remained elusive. In this article, we report the First Nigerian Bioinformatics Conference (FNBC) hosted by the Nigerian Bioinformatics and Genomics Network (NBGN) in collaboration with the Nigerian Institute of Medical Research (NIMR). The conference was held from 24th - 26th June, 2019, with the theme: “Bioinformatics in the era of genomics in Africa”. Quantitatively, the conference recorded 195 online registered participants, and up to 186 actual participants; comprising of 8 keynote speakers, 6 invited speakers, 25 oral presenters, 83 poster presenters, and up to 73 non-presenting participants. Attendees with national (up to 179) and international (up to 16) affiliations also participated at the conference. Qualitatively, broad scope of bioinformatics, genomics and molecular biology presentations in biomedicine, health, and biosciences were featured at the conference. We discuss the conference structure and activities, lessons learned, and way forward for future bioinformatics conferences in Nigeria. We further discuss the relevance of the conference which presents an increased visibility for the Nigerian bioinformatics community, positions Nigeria as a dynamic community player within the African bioinformatics space, and provides a platform for national impact through the application and implementation of the benefits of bioinformatics

First Nigerian Bioinformatics Conference (FNBC): Towards a dynamic bioinformatics community

The human genome project, which was completed in 2003, ushered in a new era of scientific applications in medicine and bioscience, and also enhanced the generation of high-throughput data which required laboratory and computational analytical approaches in fields known as genomics and bioinformatics respectively. Internationally, specific advances have been achieved which involved the formation and emergence of strong scientific communities to sustain these technological advancements. On the African continent and regionally, the Human Hereditary and Health in Africa (H3Africa), Biosciences eastern and central Africa - International Livestock Research Institute (BecA - ILRI) Hub, and the Alliance for Accelerated Crop Improvements in Africa (ACACIA), are helping to push some of these advances in human health, biosciences, and agriculture respectively. In Nigeria, we believe that significant advances have also been made by various groups since the human genome project was completed. However, a scientific gathering platform to sustainably enable scientists discuss and update these progresses remained elusive. In this article, we report the First Nigerian Bioinformatics Conference (FNBC) hosted by the Nigerian Bioinformatics and Genomics Network (NBGN) in collaboration with the Nigerian Institute of Medical Research (NIMR). The conference was held from 24th - 26th June, 2019, with the theme: “Bioinformatics in the era of genomics in Africa”. Quantitatively, the conference recorded 195 online registered participants, and up to 186 actual participants; comprising of 8 keynote speakers, 6 invited speakers, 25 oral presenters, 83 poster presenters, and up to 73 non-presenting participants. Attendees with national (up to 179) and international (up to 16) affiliations also participated at the conference. Qualitatively, broad scope of bioinformatics, genomics and molecular biology presentations in biomedicine, health, and biosciences were featured at the conference. We discuss the conference structure and activities, lessons learned, and way forward for future bioinformatics conferences in Nigeria. We further discuss the relevance of the conference which presents an increased visibility for the Nigerian bioinformatics community, positions Nigeria as a dynamic community player within the African bioinformatics space, and provides a platform for national impact through the application and implementation of the benefits of bioinformatics