Gene Polymorphism Vitamin D receptor FokI in Thalassemia Children in AL-Muthanna Province Mohammed Qasim Waheeb 1 , Hanaa Ali Aziz 1 , Yasir Adil Jabbar Alabdali 1 1 Department of Biology, College of Science, Al Muthanna University, AL-Muthanna, Iraq Abstract Background and Objective: Vitamin D receptor is considered genetic variants that related with vitamin D status. Our study was recorded polymorphism in vitamin D receptor (VDR) FokI in beta thalassemia children. In this study has been shown polymorphism VDR FokI dominant (FF) ,hybrid(Ff).VDR is includes a beginning codon polymorphism (BCP) that consist of three codon above the course of a second beginning site (ATG).The BCP can be located by the restriction enzyme Fok I,which allele(f)references frst of the restriction site ATG is presents, whereas the allele(F) references its missing . Materials and Methods: In this study vitamin D3 levels were evaluated by Enzyme Linked Immunosorbent Assay(Elisa).FokI gene polymorphism were analyzed by using polymerase chain reaction- restriction fragment length polymorphism assay (PCR-RFLP) were estimated in 50 participants children beta thalassemia were distributed to 25 male and 25 female. Results: Patients had signifcant decrease vitamin D and serum calcium p=0.084 and p=0.751 respectively, alkaline phosphate was recorded p=0.665, potassium= 0.278 and total protein p=0.521. in the male study 84% had VD insuffciency and 16% defciency ,female study 96%had VD insuffciency and 4% defciency . Conclusion: Vitamin D3 was higher in female more than male and recorded in age category 9-12 years old .VDR FokI gene polymorphism effect VD status ,genotype FF,Ff appeared in our study and absence genotype ff. Keywords : Vitamin D receptor, Gene, polymorphism , FokI ,beta- thalassemia. Introduction Thalassemia disease is a common hereditary disorder has been observed in Mediterranean countries 1 that caused increasing anemia and production erythropoietin .As a result widening of bone marrow may share osteoporosis 2 defne is a disease infects bones ,which leads by a decrease bone mineral density( BMD) and a retrogradation in bone tissue structure, with a resultant raised bone frailty and become prone to breakage 3 .BMD is associated with vitamin D receptor (VDR) alleles located on the neighboring area of the 3’- end area 4 add to the 5’- beginning codon area 5 . The nucleotide sequence of VDR gene consists of two potential translation inception(ATG or start ) site 6 . A hormone steroid, Vitamin D (VD) is fateful for health skeleton and mineral metabolism. It is play role on osteoblasts and osteoclasts and reaction with other tissues and contribute in keeping a balance state between bone rotation and bone growth 7 as well as the essential agent for normal calicium and phosphate balance 8 . VD defciency is an increasing extent specifc with thalassemia patient, furthermore to the defnitive evidence role of VD in the conservation of various organ systems. Biological mechanisms of action VD status need more attention to focus on this particular group of patients 9 . VDR represents as a nuclear transcription factor that regulate manufacturing of protiens contributed in bone mineral homeostasis and cell reproduction 10 . The VDR of gene exists within chromosome 12(q12-q14) and consists of 11 exons that stretch75-100 kb. The 5′ non coding end of the gene contains zones of exons 1a,1b and 1c 11 . The translated VDR protein is encoded with exons 2 to 9. Exons 7 to 9 play a crucial role in linking of VDR to its bind VD 12 ,many single nucleotide polymorphisms(SNP) that could likely amend the expression and energization of VDR that have been most a lot of studies 13 . DOI Number: 10.5958/0974-1283.2019.00207.X