Identification of newly polymorphic intron 40 markers of the von Willebrand factor gene in a Japanese population |
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| Institution: | 1. Division of Trauma and Critical Care Surgery, University of Maryland School of Medicine, Baltimore, MD, USA;2. Division of Trauma Anesthesia, University of Maryland School of Medicine, Baltimore, MD, USA;3. The Departments of Pathology and Medicine, University of Maryland Medical Center, Blood Bank, N2W50a, 22 South Greene Street, Baltimore, Maryland 21201, USA;1. Erciyes University, Engineering Faculty, Department of Biomedical Engineering, Türkiye;2. Erciyes University, Faculty of Medicine, Department of Radiology, Türkiye;1. National Laboratory for Complex Systems and Turbulence, Department of Mechanics, Peking University, Beijing 100871, China;2. State Key Joint Laboratory of Environmental Science and Pollution Control, School of Environment, Beijing Normal University, Beijing 100875, China;1. Forensic Medicine Section, Division of Pathology, University of Edinburgh, Teviot Place, EH8 9AG Edinburgh, UK;2. Department of Forensic Medicine, Medical University of Gdańsk, ul. Dębowa 23, 80-204 Gdańsk, Poland;1. The A. Graeme Mitchell Chair in Human Genetics, Division and Program in Human Genetics, Children’s Hospital Medical Center, 3333 Burnet Avenue, ML 4006, Cincinnati, OH 45229-3039, USA;2. The Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA;1. Department of Forensic Medicine and Medico-legal, Faculty of Medicine, University of Indonesia, Jl. Salemba Raya no. 6, Jakarta 10430, Indonesia;2. Scientific and Technical Research Center, Ministry Justice Investigation Bureau, 74, Chung-Hua Road, Taipei County, Taiwan, ROC |
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| Abstract: | We investigated a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWF) gene (nucleotides nt] 1639–2404; i.e., F8VWF). We identified 13 alleles and 33 genotypes in 49 unrelated Japanese individuals. The heterozygosity of the region was 0.897. Direct sequence analyses revealed five single-base substitutions, one tetranucleotide (TTAT) insertion, and seven short tandem repeats (STRs) in the intron; four of the STRs and one single-base substitution had been reported previously. The four new base substitutions we identified were 1849T>A, 2122C>T, 2180C>T, and 2192C>T. The novel TTAT tetranucleotide was inserted between nt 2057 and 2058. The three newly identified STRs were 1978(TATC)1–2, 2193(ATCT)5–13, and 2234(TGTA)5–7. The five single-base substitutions and the TTAT insertion were identified only with 3′ downstream of vWA allele 14. |
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