Modulator Effect of XmnI Polymorphism Concerning 50 Mauritanian Sickle Cell Disease PatientsJournal: International Journal of Science and Research (IJSR) (Vol.7, No. 2)
Publication Date: 2018-02-05
Authors : Ghaber Sidi Mohamed; Salem Mohamed Lemine; Kleib A-S; F. Najjar; Aminetou Mohamed;
Page : 1384-1387
Keywords : XmnI; sickle cell disease; Mauritania;
The present study shows that the XmnI polymorphism (rs7482144) at -158 C T of G gene is well associated with increased expression of HbF among sickle cell homozygotes in Mauritania. The prevalence of homozygous and heterozygous XmnI polymorphism is respectively of 36 % and 34 %, whereas negative individuals for this polymorphism are of 30 % in the Mauritania population. This XmnI polymorphism induces increased HbF synthesis. The most found haplotype in Mauritania is the Senegalese type (77.7 %) which was described as a relative protector by the presence of HbF followed by the beninese haplotype (8.8 %), the Arab-Indian (5.5 %), the Bantu (4.4 %) and the two atypical haplotypes 1 and 2 (2.2 and 1.1 %) reflecting the multiethnic character of Mauritania.
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