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 677Cï¬T POLYMORPHISM ON B12 VITAMIN AND HOMOCYSTEINE METABOLISM Beta thalassemia is hereditary disorder which characterized by a genetic deï¬ciency 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 ineï¬ective 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 ï¬rst observation of this rare b-globin mutation in a 30-year-old male with Arab origin living in Hatay province of Turkey. Ë N Sensoy, 2Y Soysal, 3A Kahraman, 4N Dogan, Â¸ Ë N _ImirzalÄ±oglu 1Department of Family Medicine, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey; 2 Department
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