Reference : Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients s...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.
Mikobi, Tite Minga [> >]
Tshilobo Lukusa, Prosper [> >]
Aloni, Michel Ntetani [> >]
Lumaka Zola, Aimé mailto [Université de Liège - ULiège > > Human Genetics >]
Kaba, Didine Kinkodi [> >]
Devriendt, Koenraad [> >]
Matthijs, Gert [> >]
Mbuyi Muamba, Jean Marie [> >]
Race, Valerie [> >]
Journal of Clinical Laboratory Analysis
Yes (verified by ORBi)
United States
[en] Adolescent ; Adult ; Anemia, Sickle Cell/epidemiology/genetics ; Carrier Proteins/genetics ; Child ; Cross-Sectional Studies ; DNA, Intergenic/genetics ; Democratic Republic of the Congo/epidemiology ; Fetal Hemoglobin ; GTP-Binding Proteins/genetics ; Gene Frequency ; Genotype ; HSP70 Heat-Shock Proteins/genetics ; Humans ; Nuclear Proteins/genetics ; Peptide Elongation Factors/genetics ; Proto-Oncogene Proteins c-myb/genetics ; Young Adult ; BCL11A ; HBS1L-MYB ; Africa ; Bantu population ; Democratic Republic of Congo ; Kinshasa ; polymorphism ; sickle cell anemia ; steady state
[en] BACKGROUND: We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients. METHODS: A preliminary cross-sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies. RESULTS: In the group 1, at rs7606173, the observed frequency for the genotype GG was significantly higher and the genotype GC was significantly lower than their respective expected frequencies. At rs9399137, the observed frequency of the genotype TT was significantly lower than expected. Conversely, the observed frequency of the genotype TC was significantly higher than expected. The observed frequency of the genotype TT at rs11886868 was significantly lower than the expected whereas the frequency of the genotype TC was significantly higher than observed. The lowest HbF level was recorded in patients with genotype CC at rs11886868. CONCLUSION: In this preliminary study, the results demonstrate that alleles of some of the 8 studied SNPs are not randomly distributed among patients with or without HPFH in this cohort.
(c) 2017 Wiley Periodicals, Inc.

File(s) associated to this reference

Fulltext file(s):

Restricted access
Lumaka 7.pdfPublisher postprint276.73 kBRequest copy

Bookmark and Share SFX Query

All documents in ORBi are protected by a user license.