در افزایش HBS1L-MYB و BCL11A بررسی نقش مارکر های پلی مورفیک هموگلوبین جنینی افراد ناقل و مبتلا به تالاسمی بتا در جنوب ایران- خوزستان

Autor: حمید, محمد, بافقی, نیلوفر برخورداری, شریعتی, غلامرضا, داری, حمید گله, صابری, علی حسین, صداقت, علیرضا
Zdroj: Jundishapur Scientific Medical Journal; Jan/Feb2018, Vol. 16 Issue 6, p611-619, 9p
Abstrakt: Background and Objective: The increase of HbF in some betathalassemia and sickle cell patients ameliorates the disease severity. Therefore, understanding the reasons behind the increasing of fetal hemoglobin is needful. The molecular explanation of fetal hemoglobin increment might be correlated with the genes which play a regulatory role in expression of betaglobin cluster genes. In this study, the likelihood of polymorphisms of BCL11A and HBS1L-MYB regions to cause HbFelevation was studied. Subjects and Methods: In this investigation, 50 thalassemia patients with high level of fetal hemoglobin and 50 healthy individuals as control group were selected from Khuzestan. The allele frequency of rs28384513, rs766432, rs11886868 and rs4895441 polymorphisms were assessed by using PCR-RFLP and PCR- sequencing methods. Results: The frequency of C allele in rs766432 (A/C), C allele in rs11886868 (C/T) and A allele in rs28384513 (A/C) were significantly high among the patients with increased level of HbF. Whereas, the frequency of rs4895441 (A/G) polymorphism had no significant differences compared with the patients with high level of HbF and control group. Conclusion: Based on this study, rs766432 (A/C), rs11886868 (C/T) and rs28384513 (A/C) polymorphisms are correlated with HbF increased and they can be used to predict the clinical features of fetus in case of bearing the major or intermediate forms of thalassemia. However, to confirm these results these markers need to be studied by applying a larger number of samples. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index