Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients
المؤلفون المشاركون
Cyrus, Cyril
Vatte, Chittibabu
Borgio, J. Francis
Al-Rubaish, Abdullah
Chathoth, Shahanas
Nasserullah, Zaki A.
Jarrash, Sana Al
Sulaiman, Ahmed
Qutub, Hatem
Alsaleem, Hassan
Alzahrani, Alhusain J.
Steinberg, Martin H.
Ali, Amein K. Al
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-02-09
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Background and Objectives.
β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively.
The elevation of fetal hemoglobin (HbF) can ameliorate the severity of these disorders.
In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region.
This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients.
Materials and Methods.
A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs) from the three QTL regions using TaqMan assay on real-time PCR.
Results.
Genotype analysis revealed that six alleles of HBS1L-MYB QTL (rs9376090C p=0.0009, rs9399137C p=0.008, rs4895441G p=0.004, rs9389269C p=0.008, rs9402686A p=0.008, and rs9494142C p=0.002) were predominantly associated with β-thalassemia.
In addition, haplotype analysis revealed that haplotypes of HBS1L-MYB (GCCGCAC p=0.022) and HBG2 (GTT p=0.009) were also predominantly associated with β-thalassemia.
Furthermore, the HBS1L-MYB region also exhibited association with the high HbF cohort.
Conclusion.
The stimulation of HbF gene expression may provide alternative therapies for the amelioration of the disease severity of β-thalassemia.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Cyrus, Cyril& Vatte, Chittibabu& Borgio, J. Francis& Al-Rubaish, Abdullah& Chathoth, Shahanas& Nasserullah, Zaki A.…[et al.]. 2017. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International،Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Cyrus, Cyril…[et al.]. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International No. 2017 (2017), pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Cyrus, Cyril& Vatte, Chittibabu& Borgio, J. Francis& Al-Rubaish, Abdullah& Chathoth, Shahanas& Nasserullah, Zaki A.…[et al.]. Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-7.
https://search.emarefa.net/detail/BIM-1134388
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1134388
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر