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Showing 3 results for Rflp

Mohammad Reza Abbaszadegan, Massod Ziaee, Farhad Khadivi-Zand, Zahra Badiee, Bahram Khazaei, Zohreh Vahedian, Fahimeh Mehrabian, Ezat Dadkhah,
Volume 3, Issue 4 (1-2007)
Abstract

  Abstract

 Background and Objectives

 Hemophilia A is the most common X-linked blood coagulation disorder. The prevalence rate of this disease in various communities is about 1-2/10000 males. The prevalence of hemophilia A is very high in southern Khorasan population, perhaps due to their isolation and high rate of consanguinity. The aim of this research was to detect hemophilia A carriers in two villages of southern Khorasan and set a prenatal diagnosis program for these families.

 

 Materials and Methods

 Blood samples of 34 patients with hemophilia A out of 51 family members (9 families) from two villages were collected. We were also able to collect samples from 7 mothers out of 9 families. Intragenic polymorphic sites in factor VIII gene including HindIII, Bc1I and AlwNI were used for carrier detection. DNA extraction and PCR-RELP were also performed.

 

 Results

 The results revealed 3 heterozygote mothers for HindIII, 2 for Bc1I and 1 for AlwNI. We utilized these polymorphic sites for carrier analysis in these families. Ultimately, 4 carrier sisters of affected boys in this population were found it was then possible to perform prenatal diagnosis procedure for their families.

 

 Conclusions

 HindIII and Bc1I polymorphisms can be suitable markers for hemophilia prenatal diagnosis in these two villages.

 

 Key words : Hemophilia A, RFLP (Restriction Fragment Length Polymorphism), Carrier detection

 


A. Rajabi, A. Arab, Dr. M. Karimipoor, Dr. S. Kaviani, Dr. Kh. Arjmandi, Dr. S. Zeinali,
Volume 8, Issue 1 (3-2011)
Abstract

  Abstract

 Background and Objectives

 The molecular basis for thalassemia intermedia (TI) is determined in most thalasemia affected countries, but in Iran there has been no perfect investigation so far. This report is the results of the first step of a comprehensive analysis on molecular basis of TI in Iran. Two most important factors influencing the phenotype of TI, i.e. beta globin gene mutations, G γ XmnI polymorphism, and genotype/phenotype correlation in these patients were analysed.

 

 Materials and Methods

 In an experimental pilot study, 42 TI patients who referred to Ali-Asghar Hospital were selected and genomic DNA was extracted by salting out method. The ARMS-PCR technique was performed to detect the most prevalent β thalassemia mutations in Iran: IVSII-1 (G>A). Direct DNA sequencing was performed on the samples which had at least one unidentified allele. Simultaneously, G γ XmnI polymorphism was determined using PCR-RFLP procedure. Afterwards, the association of this polymorphism with TI was analyzed.

 

 Results

 Among 76 chromosomes, IVSII-1 was the most frequent mutation detected with 42 alleles (55.26%). Totally, 66 β globin alleles (86.84%) were β0 and 7 (9.21%) β+. In addition, 61 chromosomes (80.26%) were positive for XmnI polymorphism. This polymorphism was in strong linkage to β0 mutations, mainly IVSII-1. No cases with IVSII-1 mutation were XmnI-/-.

 

 Conclusions

 It seems that the presence of XmnI polymorphism may play an important role in reducing the clinical severity of thalassemia in patients with severe β0 alleles. However, other genetic factors should be also investigated.

 


A. Mashayekhi, Dr. Sh. Shahbazi,
Volume 11, Issue 1 (2-2015)
Abstract

  Abstract

  Background and Objectives

 Fibrinogen, coagulation factor 1, is a soluble plasma glycoprotein which converts thrombin to fibrin fibers in the coagulation cascade. Various polymorphisms located on beta chain gene, FGB, have been studied. The promoter – G455A (rs1800790) polymorphism had been shown to be significantly associated with fibrinogen plasma levels. In this study, the frequency of rs1800790 ‎ polymorphism has been assessed and the correlation was evaluated between this variant and fibrinogen plasma levels.

 

  Materials and Methods

 Whole blood samples were collected for DNA isolation. To perform ‎ rs1800790 ‎ genotyping, the region encompassing the HaeIII restriction site was amplified using specific primers. The plasma levels of fibrinogen were measured and the obtained data were analyzed by SPSS software.

 

  Results

  The levels of plasma fibrinogen has shown a significant correlation with FGBrs1800790 ‎ genotype (p-value = 0.021 ‎ ‏ ‏ CI = 0 ‎ .347 ‎ ‏- ‎‎ 3.253). Minor allele frequency was estimated to be 0.28 which was consistent with the predicted value.

 

  Conclusions

  The significant correlation between fibrinogen and FGBrs1800790 ‎ genotype emphasizes the importance of this variant in the modulation of fibrinogen plasma concentrations. Since FGBrs1800790 ‎ contributes to the gene expression and environmental risk factors, it is important to be noticed in the cardiovascular disease.

 

   



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