Artículo
Iglesias, D.M.; Martín, R.S.; Fraga, A.; Virginillo, M.; Kornblihtt, A.R.; Arrizurieta, E.; Viribay, M.; San Millán, J.L.; Herrera, M.; Bernath, V. "Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina" (1997) Journal of Medical Genetics. 34(10):827-830
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Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder with 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. Here we report the existence of locus heterogeneity for this disease in the Argentinian population by performing linkage analysis on 12 families of Caucasian origin. Eleven families showed linkage to PKD1 and one family showed linkage to PKD2. Two recombinants in the latter family placed the locus PKD2 proximal to D4S1563, in agreement with data recently published on the cloning of this gene. Analysis of clinical data suggests a milder ADPKD phenotype for the PKD2 family.
Registro:
| Documento: | Artículo |
| Título: | Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| Autor: | Iglesias, D.M.; Martín, R.S.; Fraga, A.; Virginillo, M.; Kornblihtt, A.R.; Arrizurieta, E.; Viribay, M.; San Millán, J.L.; Herrera, M.; Bernath, V. |
| Filiación: | Inst. Invest. Medicas Alfredo Lanari, Universidad de Buenos Aires, Donato Alvarez 3150, 1427 Buenos Aires, Argentina Biol. Molec. Diagnóstica SA, Buenos Aires, Argentina INGEBI, Facultad de Ciencias Exactas, Universidad de Buenos Aires, Argentina Unidad de Genética Molecular, Hospital Ramón Y Cajal, Madrid, Spain |
| Palabras clave: | Genetic heterogeneity; Linkage analysis; Polycystic kidney disease; argentina; article; autosomal dominant inheritance; chromosome 16p; chromosome 4q; clinical study; controlled study; dna determination; female; gene location; gene locus; gene mapping; genetic association; genetic heterogeneity; genetic linkage; human; human cell; kidney disease; kidney polycystic disease; major clinical study; male; molecular cloning; phenotype; priority journal; Adolescent; Adult; Argentina; Child; Child, Preschool; European Continental Ancestry Group; Female; Genetic Heterogeneity; Humans; Infant; Linkage (Genetics); Male; Membrane Proteins; Pedigree; Polycystic Kidney, Autosomal Dominant; Proteins; TRPP Cation Channels |
| Año: | 1997 |
| Volumen: | 34 |
| Número: | 10 |
| Página de inicio: | 827 |
| Página de fin: | 830 |
| Título revista: | Journal of Medical Genetics |
| Título revista abreviado: | J. MED. GENET. |
| ISSN: | 00222593 |
| CODEN: | JMDGA |
| CAS: | Membrane Proteins; polycystic kidney disease 1 protein; polycystin 2; Proteins; TRPP Cation Channels |
| Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00222593_v34_n10_p827_Iglesias |
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Citas:
---------- APA ----------
Iglesias, D.M., Martín, R.S., Fraga, A., Virginillo, M., Kornblihtt, A.R., Arrizurieta, E., Viribay, M.,..., Bernath, V. (1997) . Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina. Journal of Medical Genetics, 34(10), 827-830.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00222593_v34_n10_p827_Iglesias [ ]
---------- CHICAGO ----------
Iglesias, D.M., Martín, R.S., Fraga, A., Virginillo, M., Kornblihtt, A.R., Arrizurieta, E., et al. "Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina" . Journal of Medical Genetics 34, no. 10 (1997) : 827-830.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00222593_v34_n10_p827_Iglesias [ ]
---------- MLA ----------
Iglesias, D.M., Martín, R.S., Fraga, A., Virginillo, M., Kornblihtt, A.R., Arrizurieta, E., et al. "Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina" . Journal of Medical Genetics, vol. 34, no. 10, 1997, pp. 827-830.Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00222593_v34_n10_p827_Iglesias [ ]
---------- VANCOUVER ----------
Iglesias, D.M., Martín, R.S., Fraga, A., Virginillo, M., Kornblihtt, A.R., Arrizurieta, E., et al. Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina. J. MED. GENET. 1997;34(10):827-830.Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00222593_v34_n10_p827_Iglesias [ ]
