نتایج جستجو برای: xmn1 polymorphism

تعداد نتایج: 107377  

2012
Sanjay Pandey Sweta Pandey Rahasya Mani Mishra Renu Saxena

Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle...

2015
Fereshteh Maryami Azita Azarkeivan Mohammad Sadegh Fallah Sirous Zeinali

BACKGROUND Thalassemia syndromes are the most prevalent single gene disorders in Iran. This study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or Xmn1 SNP on disease phenotype in a large cohort of Iranian patients. SUBJECTS AND METHODS In total, 433 patients were clinically classified into β-thalassemia major ...

Background: One of the most important phenotypic modifying factors for thalassemia is the presence of Xmn1 polymorphism. This retrospective study was performed to investigate the overall prevalence of Xmn1 polymorphism among Iranian β-thalassemia patients with homozygote IVSII-1mutation and to assess the relationship between Xmn1 polymorphism with patients’ hemoglobin levels and the response to...

Journal: :international journal of hematology-oncology and stem cell research 0
fereshteh maryami biotechnology research center, department of molecular medicine, pasteur institute of iran, tehran, iran azita azarkeivan pediatric hematology oncology, transfusion research center, high institute for research and education in transfusion medicine, department of thalassemia clinic, tehran, iran mohammad sadegh fallah kawsar human genetics research center, tehran, iran sirous zeinali iranian molecular medicine network, biotechnology research center, pasteur institute of iran, pasteur st, tehran, iran kawsar human genetics research center, tehran, iran

background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

Journal: :Indian pediatrics 2005
I Panigrahi S Agarwal T Gupta P Singhal M Pradhan

The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP ...

2012
Sanjana Bhagat Pradeep Kumar Patra Amar Singh Thakur

The γ(G)-158 (C→T) polymorphism plays important function in the disease severity of sickle cell anemia. The XmnI restriction site at -158 position of the γ(G)-gene is associated with increased expression of the γ(G)-globin gene and higher production of HbF. This study aims to determine the frequency of the different genotypes of the γ(G) Xmn I polymorphism in sickle cell anemia and sickle cell ...

2005
Y. K. Kuo K. M. Sivakumar H. C. Chen J. H. Su C. S. Lue

We present the measurements of electrical resistivity , specific heat CP , Seebeck coefficient S , as well as thermal conductivity of the Heusler compounds Ni2+xMn1−xGa from 10 to 400 K. A series of Ni2+xMn1−xGa alloys were prepared with x=0, 0.04, 0.06, 0.10, 0.14, 0.18, and 0.24 to systematically study the effect of substitution on the martensitic and ferromagnetic transitions. Unusual sharp ...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علوم بهزیستی و توانبخشی - پژوهشکده علوم بهزیستی 1390

چکیده ناحیه ی 5`hs4 beta globin lcr در 86 بیمار تالاسمی که ژنوتیپ بتا گلوبین هموزیگوت و یا هتروزیگوت مرکب داشتند بررسی شد. با مقایسه ی داده های بدست آمده از این مطالعه و داده های موجود از سایر نواحی مرتبط در جمعیت بیمار و 101 فرد نرمال مشخص شد که فرکانس آلل g در 5`beta globin lcr hs4 و xmn1- hbg2 مثبت در بیماران تالاسمی نسبت به جمعیت نرمال بالاتر است. ناهمسنگی پیوستگی بین آلل g، xmn1- hbg2 مثب...

Journal: :American journal of hematology 2015
Siana Nkya Mtatiro Julie Makani Bruno Mmbando Swee Lay Thein Stephan Menzel Sharon E Cox

Fetal hemoglobin (HbF) is a recognized modulator of sickle cell disease (SCD) severity. HbF levels are strongly influenced by genetic variants at three major genetic loci, Xmn1-HBG2, HMIP-2, and BCL11A, but the effect of these loci on the hematological phenotype in SCD, has so far not been investigated. In a cohort of individuals with SCD in Tanzania (HbSS and HbS/β° thalassemia, n = 726, aged ...

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