Detection of Transversions and Transitions in HBG2 Cis-Elements Associated with Sickle Cell Allele in Ghanaians.

G K Ababio, I Ekem, J Acquaye, S Y Oppong, A G B Amoah, J Brandful, I K Quaye

Abstract read

In one paragraph

Article in Biochemical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

0.3field-weighted citation impact, top 35% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 2 countries.

G K AbabioDepartment of Medical Biochemistry, University of Ghana Medical School, Accra, Ghana. gkababio@ug.edu.gh.

I EkemDepartment of Hematology, University of Cape Coast School of Medicine, Cape Coast, Ghana.

J AcquayeDepartment of Hematology, University of Ghana Medical School, Accra, Ghana.

S Y OppongDepartment of Medical Biochemistry, University of Ghana Medical School, Accra, Ghana.

A G B AmoahDepartment of Medicine, University of Ghana Medical School, Accra, Ghana.

J BrandfulDepartment of Virology, Noguchi Memorial Institute of Medical Research, Legon, Ghana.

I K QuayeDepartment of Biochemistry, University of Namibia Medical School, Windhoek, Namibia. isaac.quaye@regent.edu.gh.

University of Ghana · GHNoguchi Memorial Institute for Medical Research · GHUniversity of Cape Coast · GHUniversity of Namibia · NA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Short tandem repeats located 5' prime to the β-globin gene, have been observed to be in linkage disequilibrium with the HbS allele, and thought to affect the severity of sickle cell disease. Here, we report on new mutants within the HBG2 region that may impact sickle cell disease. To determine the cis-acting elements microsatellites, indels and single nucleotide polymorphisms (SNPs), within the HBG2 region by sequencing, in subjects with sickle cell disease. The case-control study was located at the Center for Clinical Genetics, Sickle cell unit, Korle-Bu Teaching Hospital. A questionnaire was used for demographic data and clinical information. Hematological profile (red blood cell, white blood cell, platelet, hemoglobin and mean corpuscular volume) were assessed in 83 subjects. A set of 45 samples comprising amplified DNA on the HBG2 gene from HbSS (22), HbSC (17) and 6 controls (HbAA) were sequenced. Differences in the microsatellite region between sickle cell disease (SCD) (HbSS and HbSC) genotypes and control subjects were identified by counting and assessed by Chi-square analysis. Red blood cells, hematocrit, platelets, white blood cells and hemoglobin indices differed in genotypic groups. HbSS subjects were affirmed to have severer hemolytic anemia than HbSC subjects. Two indels (T1824 and C905) were seen in both SS and SC genotypes. Two peculiar SNPs: G:T

Indexed as

Anemia, Sickle CellHemoglobin SC DiseaseAllelesCase-Control StudiesGhanaHemoglobinsHumansHemoglobinsBeta globin geneChromosome 11Cis-acting elementsShort tandem repeatsSickle cell anemiaSickle cell diseaseSingle nucleotide polymorphismTransitionTransversion

Identifiers

PMID37395849

DOI10.3109/03630269.2010.544620

OpenAlexW4382918434

What OpenQuestion holds

Textmetadata

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.