Evidence map›Paper›PMID 30766565›Full record

ArticleAfrican health sciences2018

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

Emuejevoke T Toye, Guido van Marle, Wendy Hutchins, Olayinka Abgabiaje, Joy Okpuzor

Abstract read
In one paragraph

Article in African health sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Emuejevoke T ToyeUniversity of Lagos, Department of Cell Biology and Genetics.
Guido van MarleUniversity of Calgary Cumming School of Medicine, Department of Microbiology Immunology and Infectious Diseases.
Wendy HutchinsUniversity of Calgary Cumming School of Medicine, Department of Microbiology Immunology and Infectious Diseases.
Olayinka AbgabiajeUniversity of Lagos, Department of Cell Biology and Genetics.
Joy OkpuzorUniversity of Lagos, Department of Cell Biology and Genetics.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSickle 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).

objectiveTo investigate the use of the single tube ASPCR as an accurate and affordable method for SCA screening in Nigeria.

methodsDNA 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.

resultsAmplicons 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.

conclusionThis 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.

Indexed as

AllelesAnemia, Sickle CellHemoglobin AHemoglobin, SickleHumansMass ScreeningNigeriaPolymerase Chain ReactionPolymorphism, Single NucleotideReproducibility of ResultsSensitivity and SpecificityHemoglobin AHemoglobin, Sicklemolecular diagnostic techniquespolymerase chain reactionSickle cell anaemia

Identifiers

PMID30766565
PMCPMC6354853

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