Artículo
Iglesias, D.M.; Manrique, M.; Arrizurieta, E.E.; Kornblihtt, A.R.; Herrera, M.; Martin, R.S.; Bernath, V.A. "Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene " (1999) Medicina. 59(2):133-137
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Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by genetic heterogeneity. Up to three loci are involved in this disease, PKD1 on chromosome 16p13.3, PKD2 on 4q21, and a third locus of unknown location. Since the identification of the PKD1 gene, the interest was centered in the characterization of the mutations responsible for the disease. Most mutations found were diverse and situated throughout the gene with no phenotypic correlation. Here we describe a new mutation in exon 44 from PKD1 gene in a family previously characterized as PKD1 by linkage analysis. The mutation is a single base substitution from a C to a T at position 12220 originating a stop codon at the mutation site. This would lead to premature termination and the formation of a truncated protein lacking part of the carboxi-terminus.
Registro:
| Documento: | Artículo |
| Título: | Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene |
| Autor: | Iglesias, D.M.; Manrique, M.; Arrizurieta, E.E.; Kornblihtt, A.R.; Herrera, M.; Martin, R.S.; Bernath, V.A. |
| Filiación: | Institute de Investigaciones Médicas Alfredo Lanari, Facultad de Medicina, Buenos Aires, Argentina Facultad de Ciencias Exactas Y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina Biologfa Molecular Diagnôstica SA, Buenos Aires, Argentina Institute de Investigaciones, Médicas Alfredo Lanari, Combatientes de Malvinas 3150, 1427 Buenos Aires, Argentina |
| Palabras clave: | Mutational analysis; Novel PKD1 mutation; PKD1; Polycystic kidney disease type 1; polycystic kidney disease 1 protein; polycystin; protein; adolescent; adult; article; DNA sequence; genetic linkage; genetics; human; kidney polycystic disease; mutation; newborn; stop codon; Adolescent; Adult; Codon, Terminator; Humans; Infant, Newborn; Linkage (Genetics); Mutation; Polycystic Kidney, Autosomal Dominant; Proteins; Sequence Analysis, DNA; TRPP Cation Channels |
| Año: | 1999 |
| Volumen: | 59 |
| Número: | 2 |
| Página de inicio: | 133 |
| Página de fin: | 137 |
| Título revista: | Medicina |
| Título revista abreviado: | Medicina (Argentina) |
| ISSN: | 00257680 |
| CODEN: | MEDCA |
| CAS: | Codon, Terminator; polycystic kidney disease 1 protein; Proteins; TRPP Cation Channels |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias |
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Citas:
---------- APA ----------
Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S. & Bernath, V.A. (1999) . Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene . Medicina, 59(2), 133-137.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias [ ]
---------- CHICAGO ----------
Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S., et al. "Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene " . Medicina 59, no. 2 (1999) : 133-137.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias [ ]
---------- MLA ----------
Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S., et al. "Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene " . Medicina, vol. 59, no. 2, 1999, pp. 133-137.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias [ ]
---------- VANCOUVER ----------
Iglesias, D.M., Manrique, M., Arrizurieta, E.E., Kornblihtt, A.R., Herrera, M., Martin, R.S., et al. Autosomal dominant polycystic kidney disease: Detection of a novel mutation in the PKD1 gene . Medicina (Argentina). 1999;59(2):133-137.Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v59_n2_p133_Iglesias [ ]
