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X ‐ Late Breaking Abstracts

X ‐ Late Breaking Abstracts FIRST OBSERVATION OF A RARE FRAMESHIFT MUTATION [CODONS 9/10 (+T)] IN THE b-GLOBIN GENE IN TURKEY X03 1 R Gunesacar, 2MM Celik 1Departments of Medical Biology and Genetics, Faculty of Medicine, Mustafa Kemal University, Antakya, Hatay, Turkey; 2Department of Internal Medicine, Faculty of Medicine, Mustafa Kemal University, Antakya, Hatay, Turkey MODULATOR EFFECTS OF THE METHYLENETETRAHYDROFOLATE REDUCTASE 677CfiT POLYMORPHISM ON B12 VITAMIN AND HOMOCYSTEINE METABOLISM Beta thalassemia is hereditary disorder which characterized by a genetic deficiency in the synthesis of b-globin production. The genetic defect usually results from missense or nonsense mutation in the b-globin gene. Heterozygous form of the disease is also known thalassemia trait is characterized by chronic course, and low-grade ineffective erythropoiesis. Here, we determined a very rare frameshift mutation [codons 9/10 (+T)] in a subject with beta thalassemia trait who applied to our laboratory for genetic investigation in the context of premarital screening program. Present report describes the first observation of this rare b-globin mutation in a 30-year-old male with Arab origin living in Hatay province of Turkey. ˘ N Sensoy, 2Y Soysal, 3A Kahraman, 4N Dogan, ¸ ˘ N _Imirzalıoglu 1Department of Family Medicine, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey; 2 Department http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

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