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Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determin...
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Published in: | Brazilian journal of biology 2021-03, Vol.81 (2), p.392-397 |
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description | Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction. |
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However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.</description><identifier>ISSN: 1519-6984</identifier><identifier>ISSN: 1678-4375</identifier><identifier>EISSN: 1678-4375</identifier><identifier>DOI: 10.1590/1519-6984.227131</identifier><identifier>PMID: 32491055</identifier><language>eng</language><publisher>Brazil: Instituto Internacional de Ecologia</publisher><subject>Amplification ; Animals ; BIOLOGY ; Brazil - epidemiology ; Cats ; Cysts ; Deoxyribonucleic acid ; DNA ; feline ; felis catus ; Genetic counseling ; genetic disorder ; Genetic screening ; Genotyping ; Kidney diseases ; Kidneys ; Mutation ; Nucleotides ; Polycystic kidney ; Polycystic kidney disease 1 protein ; Polycystic Kidney, Autosomal Dominant - epidemiology ; Polycystic Kidney, Autosomal Dominant - genetics ; Polycystic Kidney, Autosomal Dominant - veterinary ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Prevalence ; Restriction fragment length polymorphism ; Transversion ; Ultrasonic imaging ; Veterinary colleges ; Veterinary medicine</subject><ispartof>Brazilian journal of biology, 2021-03, Vol.81 (2), p.392-397</ispartof><rights>2021. This work is published under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>This work is licensed under a Creative Commons Attribution 4.0 International License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3891-ad0b23f76ea211e4ad52ecd270f0509b62c1a26ae67fcbf01c4d2facc276fc93</citedby><cites>FETCH-LOGICAL-c3891-ad0b23f76ea211e4ad52ecd270f0509b62c1a26ae67fcbf01c4d2facc276fc93</cites><orcidid>0000-0002-3296-9735 ; 0000-0002-4053-5419 ; 0000-0003-0520-614X ; 0000-0002-0326-7187 ; 0000-0002-1388-7240</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2493868535?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,24150,25753,27924,27925,37012,37013,44590</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32491055$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Guerra, J M</creatorcontrib><creatorcontrib>Cardoso, N C</creatorcontrib><creatorcontrib>Daniel, A G T</creatorcontrib><creatorcontrib>Onuchic, L F</creatorcontrib><creatorcontrib>Cogliati, B</creatorcontrib><title>Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil</title><title>Brazilian journal of biology</title><addtitle>Braz J Biol</addtitle><description>Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.</description><subject>Amplification</subject><subject>Animals</subject><subject>BIOLOGY</subject><subject>Brazil - epidemiology</subject><subject>Cats</subject><subject>Cysts</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>feline</subject><subject>felis catus</subject><subject>Genetic counseling</subject><subject>genetic disorder</subject><subject>Genetic screening</subject><subject>Genotyping</subject><subject>Kidney diseases</subject><subject>Kidneys</subject><subject>Mutation</subject><subject>Nucleotides</subject><subject>Polycystic kidney</subject><subject>Polycystic kidney disease 1 protein</subject><subject>Polycystic Kidney, Autosomal Dominant - epidemiology</subject><subject>Polycystic Kidney, Autosomal Dominant - genetics</subject><subject>Polycystic Kidney, Autosomal Dominant - veterinary</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Prevalence</subject><subject>Restriction fragment length polymorphism</subject><subject>Transversion</subject><subject>Ultrasonic imaging</subject><subject>Veterinary colleges</subject><subject>Veterinary medicine</subject><issn>1519-6984</issn><issn>1678-4375</issn><issn>1678-4375</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNpdUk1v1DAQjRCIlsKdE7LEhUsWf8RJfISKj0qVqETv1sQegxcnXuyk0vLrcUh3D5w8st97fjNvquo1ozsmFX3PJFN1q_pmx3nHBHtSXbK26-tGdPJpqU_PF9WLnPeUcklF_7y6ELxRjEp5Wf28S_gAASeDJDoCyxxzHCEQG0c_wTSTQwxHc8yzN-SXtxMeifUZISPxE7nDlD1MBCZ7quuEAWa0xMCcV8zHBH98eFk9cxAyvno8r6r7z5_ur7_Wt9--3Fx_uK2N6BWrwdKBC9e1CJwxbMBKjsbyjjoqqRpabhjwFrDtnBkcZaax3IExvGudUeKqutlkbYS9PiQ_QjrqCF7_u4jph4ZUegmoGSu6IAehOtcI2_eDtLRxhrLyTeO6orXbtLLxGKLexyVNxbv-vg5Wr4PllFNajDHBaVsI7zbCIcXfC-ZZjz4bDAEmjEvWvKGKqRKCLNC3_0HP6iUb0be9FCuKbiiTYs4J3bkjRvW6AfrsRG8bUChvHoWXYUR7JpwiF38BHXypBg</recordid><startdate>202103</startdate><enddate>202103</enddate><creator>Guerra, J M</creator><creator>Cardoso, N C</creator><creator>Daniel, A G T</creator><creator>Onuchic, L F</creator><creator>Cogliati, B</creator><general>Instituto Internacional de Ecologia</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7SN</scope><scope>7SS</scope><scope>7T7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>CLZPN</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PATMY</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PYCSY</scope><scope>Q9U</scope><scope>7X8</scope><scope>GPN</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0002-3296-9735</orcidid><orcidid>https://orcid.org/0000-0002-4053-5419</orcidid><orcidid>https://orcid.org/0000-0003-0520-614X</orcidid><orcidid>https://orcid.org/0000-0002-0326-7187</orcidid><orcidid>https://orcid.org/0000-0002-1388-7240</orcidid></search><sort><creationdate>202103</creationdate><title>Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil</title><author>Guerra, J M ; Cardoso, N C ; Daniel, A G T ; Onuchic, L F ; Cogliati, B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3891-ad0b23f76ea211e4ad52ecd270f0509b62c1a26ae67fcbf01c4d2facc276fc93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Amplification</topic><topic>Animals</topic><topic>BIOLOGY</topic><topic>Brazil - 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Academic</collection><collection>SciELO</collection><collection>Directory of Open Access Journals (Open Access)</collection><jtitle>Brazilian journal of biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Guerra, J M</au><au>Cardoso, N C</au><au>Daniel, A G T</au><au>Onuchic, L F</au><au>Cogliati, B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil</atitle><jtitle>Brazilian journal of biology</jtitle><addtitle>Braz J Biol</addtitle><date>2021-03</date><risdate>2021</risdate><volume>81</volume><issue>2</issue><spage>392</spage><epage>397</epage><pages>392-397</pages><issn>1519-6984</issn><issn>1678-4375</issn><eissn>1678-4375</eissn><abstract>Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. 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subjects | Amplification Animals BIOLOGY Brazil - epidemiology Cats Cysts Deoxyribonucleic acid DNA feline felis catus Genetic counseling genetic disorder Genetic screening Genotyping Kidney diseases Kidneys Mutation Nucleotides Polycystic kidney Polycystic kidney disease 1 protein Polycystic Kidney, Autosomal Dominant - epidemiology Polycystic Kidney, Autosomal Dominant - genetics Polycystic Kidney, Autosomal Dominant - veterinary Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Prevalence Restriction fragment length polymorphism Transversion Ultrasonic imaging Veterinary colleges Veterinary medicine |
title | Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil |
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