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Clinical Trial Summary

1. - To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-6 (T>C) mutation. 2. - To detect the prevelence of the mutation among Assiut University Hospital patients. 3. - Phenotype/genotype correlation of the mutation.


Clinical Trial Description

• The β-thalassaemias result from 300 gene mutations ( https://globin.bx.psu.edu ). All of the mutations are regionally specific and the spectrum of mutations has now been determined for most at-risk populations(Old JM, 2007). - The strategy for identifying β-thalassaemia mutations is usually based on the knowledge of the common and rare mutations in the ethnic group of the individual being screened.(Old JM, 2007) . - In Mediterranean it represnts 8-15% - In Africa it represnts 3.5% - In Egyptians it represnts 13.6% ( https://globin.bx.psu.edu ). - The β globin gene mutation IVS I-6(T>C) is the First most common β globin gene mutation among Egyptians - (36.3%) according to ( Somaia El-Gawhary et al 2007 ) - (27.66%) ( Ammar D. Elmezayen et al 2015 ) - and the second most common mutation - (40%) according to ( El-shanshory M et al 2014) - (21.25%) ( Elhalfawy et al 2017) The molecular characterization of the globin gene mutation is necessary for definite diagnosis, genetic counseling, and to offer prenatal diagnosis. The amplification-refractory mutation system (ARMS) is a simple method for detecting any mutation involving single base changes or small deletions. - the DNA is analysed after amplification by PCR for Detection of point mutation IVS I-6(T>C) by Using primer pairs that only amplify individual alleles [ARMS] . ;


Study Design


Related Conditions & MeSH terms


NCT number NCT05370677
Study type Observational
Source Assiut University
Contact Fatma Elzahraa Mohamed Abd Elrady
Phone 01099696566
Email fattmamohamedabdelrady@gmail.com
Status Not yet recruiting
Phase
Start date May 2022
Completion date December 2024

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