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Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy
Provedor de dados: 48
Autores: GONZÁLEZ,RODRIGO; TIRADO,ARES; ROJAS,LUIS A; OSSANDÓN,FRANCISCO J; ALVO,MIRIAM; WOLFF,CARLOS; SEELENFREUND,DANIELA; DURRUTY,PILAR; LOBOS,SERGIO.
We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivaríate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a...
Tipo: Journal article
Palavras-chave: Diabetic nephropathy; NPHS1; Polymorphism; Splicing enhancer.
Ano: 2009
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007