FINDING THE MOST PREVALENT BETA-THALASSEMIA MUTATI0NS IN WEST AZERBAUAN PROVINCE USING ARMS/PCR METHOD

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OMRANI M.D.

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Journal: Studies in Medical Sciences Year:2003 | Volume:14 | Issue:2 Page(s): 153-154

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Title

FINDING THE MOST PREVALENT BETA-THALASSEMIA MUTATI0NS IN WEST AZERBAUAN PROVINCE USING ARMS/PCR METHOD

Author(s)

OMRANI M.D. | Issue Writer Certificate

Keywords

THALASSEMIAQ3

BETA -GLOBINQ2

MUTATIONQ3

ARMS/PCRQ3

Abstract

Background & Aim: ß-THALASSEMIA constitute one of the most serious health problems worldwide, accounting for a major number of childhood deaths per year. The diesease results from MUTATIONs in and around the ß-globin gene located as a cluster on the short arm of chromosome 11. ß-THALASSEMIA is an autosomal recessive disorder. At present more than 250 MUTATIONs produce ß -THALASSEMIA but studies showed that the molecular basis of ß -THALASSEMIA in different part of the world is quite heterogeneous. Therefore it is necessary each country accomplish their own mutations pattern. Material and Methods: One hundred-fifty chromosome from ß-THALASSEMIA patients who referred to University Genetic center by using ARMS/PCR method were investigated. For each patient 20 most common MUTATIONs of the Mediterranean region was studied. Results: The results showed IVSII-l(G -> A) with a frequency of 50.7% represented the most common MUTATION followed by the following six MUTATIONs: Fr8-9(+G) (16%), Codon 44(-C)(9.3%), IVSI-6 (T->C)(8%), IVSI-5(G->C)(8%), IVS1-110(G -> A)(5.3%), and Codon 30 (2.7%). No other MUTATION were detected. Discussion: These data suggests that the pattern of MUTATIONs in W.A province differs from those reported for other thalassemic regions. Because these 7 MUTATIONs covers more than 95% of the patients therefore they are useful in prenatal diagnosis process of the disease in the region.

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APA: Copy

OMRANI, M.D.. (2003). FINDING THE MOST PREVALENT BETA-THALASSEMIA MUTATI0NS IN WEST AZERBAUAN PROVINCE USING ARMS/PCR METHOD. STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES), 14(2), 153-154. SID. https://sid.ir/paper/365124/en

Vancouver: Copy

OMRANI M.D.. FINDING THE MOST PREVALENT BETA-THALASSEMIA MUTATI0NS IN WEST AZERBAUAN PROVINCE USING ARMS/PCR METHOD. STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES)[Internet]. 2003;14(2):153-154. Available from: https://sid.ir/paper/365124/en

IEEE: Copy

M.D. OMRANI, “FINDING THE MOST PREVALENT BETA-THALASSEMIA MUTATI0NS IN WEST AZERBAUAN PROVINCE USING ARMS/PCR METHOD,” STUDIES IN MEDICAL SCIENCE (THE JOURNAL OF URMIA UNIVERSITY OF MEDICAL SCINCES), vol. 14, no. 2, pp. 153–154, 2003, [Online]. Available: https://sid.ir/paper/365124/en

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