بررسی پلی مرفیسم های تک نوکلئوتیدی ناحیهMYB - HBS1Lدر فنوتیپ بیماران تالاسمی و میزان HbF درافراد نرمال با هاپلوتایپ های متفاوت وابسته به ناحیه کنترل بیان ژن بتا گلوبین
[پایاننامه]
The> phenotype modifying role of single nucleotide polymorphisms in HBS1-MYB region in phenotype of Thalassemia patient with different backgrounds in ?-globin locus control region (LCR)>
علوم بهزیستی و توانبخشی University of Social Welfare and Rehabilitation sciences)
، ۱۳۹۲
ه،۶۷ص.
چاپی
کارشناسی ارشد
ژنتیک انسانی Human Genetics
علوم بهزیستی و توانبخشی University of Social Welfare and Rehabilitation sciences)
In this study effect two polymorphisme on one hundred thalassemia patient and so the effect of them on the changes of fetal hemoglobin level on one hundred twenty one normal people with different genetic background in the area of 5HS4-LCR of beta-globin gene are researched. According to the result of data of this research it showed that different genotypes of the two polymorphisme on the changes level of HbF normal people it didnt have any effect and so a significant effect on the variation of phenotype of the thalassemia patient with same background on the area of 5HS4-LCR .But it seemed that diversity of phenotype on the patient population with the same background for SNPs researched in this region are very affected of 5HS4-LCR background .So it is offered that the studies on the SNPs cant show the importance of new parts and if it has any importance it is affected by the 5HS4- LCR background. In the other form the area of 5HS4-LCR an important factor about the assignment of phenotype of Thalassemia patient with the same genotype in SNPs are studied at the area of HBS1L-MYB are introduced. Keywords: -Thalassemia (-thal),BCL11A Single nucleotide polymorphism (SNP) ,HBS1L-MYB polymorphism
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The> phenotype modifying role of single nucleotide polymorphisms in HBS1-MYB region in phenotype of Thalassemia patient with different backgrounds in ?-globin locus control region (LCR)>