有哪些信誉好的足球投注网站a common trinucleotide repeat expansion within the transcription factor 4 (tcf4, e2-2) gene predicts fuchs corneal dystrophy一个常见的三核苷酸重复扩张在转录因子4(tcf4 e2-2)基因预测fuchs角膜营养不良.pdfVIP
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a common trinucleotide repeat expansion within the transcription factor 4 (tcf4, e2-2) gene predicts fuchs corneal dystrophy一个常见的三核苷酸重复扩张在转录因子4(tcf4 e2-2)基因预测fuchs角膜营养不良
A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy 1 1 2 3 3 Eric D. Wieben , Ross A. Aleff , Nirubol Tosakulwong , Malinda L. Butz , W. Edward Highsmith , 4 5 Albert O. Edwards , Keith H. Baratz * 1 Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America, 2 Department of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, United States of America, 3 Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America, 4 Institute for Molecular Biology, University of Oregon and Oregon Retina, Eugene, Oregon, United States of America, 5 Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States of America Abstract Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation. Variation in the transcription factor 4 (TCF4) gene has been identified as a major contributor to the disease. We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected participants with severe FECD and 63 participants with normal corneas in a 3-stage discovery/replication/validation study. PCR primers flanking the TGC repeat were used to amplify leukocyte-derived genomic DNA. Repeat length was determined by direct sequencing, short tandem repeat (STR) assay and Southern blotting. Genomic Southern blots were used to evaluate samples for which only a single allele was identified by STR analysis.
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