| dc.creator | GONZÁLEZ,RODRIGO | |
| dc.creator | TIRADO,ARES | |
| dc.creator | ROJAS,LUIS A | |
| dc.creator | OSSANDÓN,FRANCISCO J | |
| dc.creator | ALVO,MIRIAM | |
| dc.creator | WOLFF,CARLOS | |
| dc.creator | SEELENFREUND,DANIELA | |
| dc.creator | DURRUTY,PILAR | |
| dc.creator | LOBOS,SERGIO | |
| dc.date | 2009-01-01 | |
| dc.date.accessioned | 2019-05-02T21:21:49Z | |
| dc.date.available | 2019-05-02T21:21:49Z | |
| dc.identifier | https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000200007 | |
| dc.identifier.uri | http://revistaschilenas.uchile.cl/handle/2250/81928 | |
| dc.description | 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 modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site. | |
| dc.format | text/html | |
| dc.language | en | |
| dc.publisher | Sociedad de Biología de Chile | |
| dc.relation | 10.4067/S0716-97602009000200007 | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.source | Biological Research v.42 n.2 2009 | |
| dc.subject | diabetic nephropathy | |
| dc.subject | NPHS1 | |
| dc.subject | polymorphism | |
| dc.subject | splicing enhancer | |
| dc.title | Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy | |
