Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina
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 disea...
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| Acceso en línea: | http://hdl.handle.net/20.500.12110/paper_00222593_v34_n10_p827_Iglesias |
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todo:paper_00222593_v34_n10_p827_Iglesias2023-10-03T14:30:11Z Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina 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 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 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_00222593_v34_n10_p827_Iglesias |
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Universidad de Buenos Aires |
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I-28 |
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R-134 |
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
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 |
| spellingShingle |
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 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 |
| topic_facet |
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 |
| description |
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. |
| format |
JOUR |
| author |
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. |
| author_facet |
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. |
| author_sort |
Iglesias, D.M. |
| title |
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| title_short |
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| title_full |
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| title_fullStr |
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| title_full_unstemmed |
Genetic heterogeneity of autosomal dominant polycystic kidney disease in Argentina |
| title_sort |
genetic heterogeneity of autosomal dominant polycystic kidney disease in argentina |
| url |
http://hdl.handle.net/20.500.12110/paper_00222593_v34_n10_p827_Iglesias |
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1807316196496769024 |