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Molecular characterization of Beta- thalassemia Mutations in Holy Karbala | ||
| KARBALĀʾ HERITAGE Quarterly Authorized Journal Specialized in Karbalāʾ Heritage | ||
| Article 1, Volume 2, Issue 4, 2015, Pages 240-270 | ||
| Authors | ||
| Asst. Instructor.Islam Ahmed Al-Massoudy; Asst.Prof.Dr.Zuhair Mohammad Ali Jeddoa | ||
| Abstract | ||
| Abstract Beta- thalassemia is autosomal recessive disease that spread in high percentages around the world. the importance of the present study was in evaluating the disease in holy Kerbala، Iraq using molecular techniques. A total of 36 of blood samples were collected from beta- thalassemia major patients، 20 samples intermedia thalassemic patients from thalassemia center- AL-Hussain medical city in holy Kerbala governorate، and 20 samples from apparently healthy individuals as a control group. The DNA molecules were extracted from all samples for molecular characterization of four β- thalassemia mutations are [IVS1- 110(G>C)،CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)] using PCR based technique called Amplification Refractory Mutation System (ARMS). The results revealed that IVS1-110 is the common mutation 70%) in the studied samples، the CD8/9(+G) mutation was ) 14 diagnosed for first time in holy Kerbala 2(10%)، the -87(C>G) was diagnosed for the first time in Iraq in percentage 4(20%) and finally the CD 41/42 was not diagnosed in the studied samples. Geographical distribution of diagnosed mutations were studied the distribution of mutations within Kerbala regions، the results showed that the city center was more affected with diagnosed mutations. Finally، results also revealed that heterozygotes were the more genotypic patterns 20(74.07%) of mutations in comparison with homozygotes with were 5(18.52%)، and the compound cases were 2(7.41%) of studied mutations. Key words: Thalassemia، ARMS-PCR، Mutations، IVS1-110(G>C)، CD8/9(+G)،-87(C>G)،CD41/42(-TCTT)، Kerbala. | ||
| Keywords | ||
| Science Heritage Section | ||
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