Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, 07070 Antalya, Turkey.
Published: June 2005
AI Article Synopsis
Article Abstract
Beta-thalassemia, which is an autosomal recessive disease, is among the most common hemoglobinopathies in Antalya, Turkey. Mutations found in Turkish beta-thalassemia patients constitute a heterogeneous group, which is mostly composed of point mutations and, only in very rare cases, a deletion or an insertion causes affected or carrier phenotypes. Reverse dot blot hybridization (RDBH) method is used for screening common mutations, and sequence analysis and silver staining were performed consecutively to detect any uncommon mutation. The authors report a first Turkish family with a rare variant--intervening sequence 2 (IVS2) 849 (A-G). The proband's mother and father were determined as carriers of IVS2.849 (A-G) and IVS1.1 (G-A) mutations, respectively. Proband is the first child of the family and she has an IVS2.849 (A-G)/IVS1.1 (G-A) genotype with ss-thalassemia major phenotype. Prenatal diagnosis was performed for the second child, and genotype of the fetus was determined as IVS2.849 (A-G)/Normal. This first report of IVS2.849 (A-G) mutation in Turkish population shows that there are many more mutations contributing the heterogeneity of the mutation spectrum of beta-globin gene in the Turkish population, which indicates migrations of different ethnic origins.
Bangladeshi indigenous chicken varieties - Common Deshi, Hilly and Naked Neck are notable for their egg production, meat quality, extraordinary survivability and disease resistance. However, the potential to harness their unique genetic merits are being eroded by various factors, including crossbreeding. In-depth genomic studies have not been carried out on these breeds so far.
Department of Pharmaceutical Sciences, College of Pharmacy, Mercer University Health Sciences Center, Mercer University, Atlanta, GA 30341, United States of America; Department of Biomedical Sciences, School of Medicine, Mercer University Health Sciences Center, Mercer University, Macon, GA 31207, United States of America. Electronic address:
Free-fatty acid receptor-4 (FFA4), previously known as GPR120, is a G protein-coupled receptor (GPCR) activated by medium-to-long chain free fatty acids (FFAs), including saturated, monounsaturated, and polyunsaturated fats, many of which (e.g., omega-3 fatty acids) are critical contributors to human health and disease.
Ruthenium dioxide (RuO) is one of the promising catalysts for the acidic oxygen evolution reaction (OER). However, designing RuO catalysts with good activity and stability remains a significant challenge. In this work, we propose the manganese (Mn)-doped RuO assembly as a catalyst for the OER with improved activity and stability.
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State Key Laboratory of Crop Genetics and Germplasm Enhancement, College of Horticulture, Nanjing Agricultural University, Weigang Street No.1, Nanjing, 210095, China.
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