Genotypes of autosomal dominant polycystic kidney disease in Japanese
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the prevalence of the genotype and the correlation between...
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| Veröffentlicht in: | Journal of human genetics 2002, Vol.47 (1), p.51-54 |
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| creator | Mizoguchi, M. Tamura, T. Yamaki, A. Higashihara, E. Shimizu, Y. |
| description | Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney disease 1 (
PKD1
) or polycystic kidney disease 2 (
PKD2
) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to
PKD1
, two families (10%) showed linkage to
PKD2
, and two families did not show linkage to either
PKD1
or
PKD2
. One of the
PKD1
-linked families was indicated to have different mutations of
PKD1
gene in the same family.
PKD2
-linked families did not have milder symptoms than
PKD1
-linked families. |
| doi_str_mv | 10.1007/s10038-002-8654-5 |
| format | Article |
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PKD1
) or polycystic kidney disease 2 (
PKD2
) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to
PKD1
, two families (10%) showed linkage to
PKD2
, and two families did not show linkage to either
PKD1
or
PKD2
. One of the
PKD1
-linked families was indicated to have different mutations of
PKD1
gene in the same family.
PKD2
-linked families did not have milder symptoms than
PKD1
-linked families.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-002-8654-5</identifier><identifier>PMID: 11829141</identifier><language>eng</language><publisher>Tokyo: Springer-Verlag</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; DNA - analysis ; DNA - blood ; Gene Expression ; Gene Function ; Gene Therapy ; Genetic Linkage ; Genotype ; Human Genetics ; Humans ; Japan - epidemiology ; Membrane Proteins - genetics ; Microsatellite Repeats ; Molecular Medicine ; Original Article ; Phenotype ; Polycystic Kidney, Autosomal Dominant - genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Proteins - genetics ; TRPP Cation Channels</subject><ispartof>Journal of human genetics, 2002, Vol.47 (1), p.51-54</ispartof><rights>The Japanese Society of Human Genetics and Springer-Verlag Tokyo 2002</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c498t-9e3081d7015ac05a174a39e5d9fb66fab6132ca3327feab51ad09c7b80681bfa3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10038-002-8654-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10038-002-8654-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,4010,27900,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11829141$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mizoguchi, M.</creatorcontrib><creatorcontrib>Tamura, T.</creatorcontrib><creatorcontrib>Yamaki, A.</creatorcontrib><creatorcontrib>Higashihara, E.</creatorcontrib><creatorcontrib>Shimizu, Y.</creatorcontrib><title>Genotypes of autosomal dominant polycystic kidney disease in Japanese</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney disease 1 (
PKD1
) or polycystic kidney disease 2 (
PKD2
) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to
PKD1
, two families (10%) showed linkage to
PKD2
, and two families did not show linkage to either
PKD1
or
PKD2
. One of the
PKD1
-linked families was indicated to have different mutations of
PKD1
gene in the same family.
PKD2
-linked families did not have milder symptoms than
PKD1
-linked families.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>DNA - analysis</subject><subject>DNA - blood</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic Linkage</subject><subject>Genotype</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Japan - epidemiology</subject><subject>Membrane Proteins - genetics</subject><subject>Microsatellite Repeats</subject><subject>Molecular Medicine</subject><subject>Original Article</subject><subject>Phenotype</subject><subject>Polycystic Kidney, Autosomal Dominant - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Proteins - genetics</subject><subject>TRPP Cation Channels</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAQhi0EoqXwA1iQJ7aAz47zMaKqFFAlFpDYLMdxUEpih1wy5N_jkkpsLLZ1fu7V3UPINbA7YCy9x3CKLGKMR1ki40iekCXEQkZc8I_T33coQgILcoG4Z4HmKT8nC4CM5xDDkmy21vlh6ixSX1E9Dh59qxta-rZ22g20881kJhxqQ7_q0tmJljVajZbWjr7oTjuL9pKcVbpBe3W8V-T9cfO2fop2r9vn9cMuMnGeDVFuBcugTBlIbZjUkMZa5FaWeVUkSaWLBAQ3WoQpK6sLCbpkuUmLjCUZFJUWK3I753a9_x4tDqqt0dimCVP4EVUaNk6k5AGEGTS9R-xtpbq-bnU_KWDq4E7N7lRwpw7ulAw9N8fwsWht-ddxlBUAPgMYvtyn7dXej70LC_-T-gN8G3o3</recordid><startdate>2002</startdate><enddate>2002</enddate><creator>Mizoguchi, M.</creator><creator>Tamura, T.</creator><creator>Yamaki, A.</creator><creator>Higashihara, E.</creator><creator>Shimizu, Y.</creator><general>Springer-Verlag</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>7X8</scope></search><sort><creationdate>2002</creationdate><title>Genotypes of autosomal dominant polycystic kidney disease in Japanese</title><author>Mizoguchi, M. ; Tamura, T. ; Yamaki, A. ; Higashihara, E. ; Shimizu, Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c498t-9e3081d7015ac05a174a39e5d9fb66fab6132ca3327feab51ad09c7b80681bfa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>DNA - analysis</topic><topic>DNA - blood</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic Linkage</topic><topic>Genotype</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Japan - epidemiology</topic><topic>Membrane Proteins - genetics</topic><topic>Microsatellite Repeats</topic><topic>Molecular Medicine</topic><topic>Original Article</topic><topic>Phenotype</topic><topic>Polycystic Kidney, Autosomal Dominant - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Proteins - genetics</topic><topic>TRPP Cation Channels</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mizoguchi, M.</creatorcontrib><creatorcontrib>Tamura, T.</creatorcontrib><creatorcontrib>Yamaki, A.</creatorcontrib><creatorcontrib>Higashihara, E.</creatorcontrib><creatorcontrib>Shimizu, Y.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mizoguchi, M.</au><au>Tamura, T.</au><au>Yamaki, A.</au><au>Higashihara, E.</au><au>Shimizu, Y.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genotypes of autosomal dominant polycystic kidney disease in Japanese</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2002</date><risdate>2002</risdate><volume>47</volume><issue>1</issue><spage>51</spage><epage>54</epage><pages>51-54</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. The prevalence of the ADPKD genotype in the Caucasian and Latin populations has been reported. Here, we used linkage analysis to demonstrate the prevalence of the genotype and the correlation between phenotypes and genotypes among 21 Japanese ADPKD families consisting of 96 individuals and including 57 affected members. Six polymorphic markers, each linked to either the polycystic kidney disease 1 (
PKD1
) or polycystic kidney disease 2 (
PKD2
) gene, were used for polymerase chain reaction analysis. Seventeen families (81%) showed linkage to
PKD1
, two families (10%) showed linkage to
PKD2
, and two families did not show linkage to either
PKD1
or
PKD2
. One of the
PKD1
-linked families was indicated to have different mutations of
PKD1
gene in the same family.
PKD2
-linked families did not have milder symptoms than
PKD1
-linked families.</abstract><cop>Tokyo</cop><pub>Springer-Verlag</pub><pmid>11829141</pmid><doi>10.1007/s10038-002-8654-5</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; SpringerLink Journals - AutoHoldings |
| subjects | Biomedical and Life Sciences Biomedicine DNA - analysis DNA - blood Gene Expression Gene Function Gene Therapy Genetic Linkage Genotype Human Genetics Humans Japan - epidemiology Membrane Proteins - genetics Microsatellite Repeats Molecular Medicine Original Article Phenotype Polycystic Kidney, Autosomal Dominant - genetics Polymerase Chain Reaction Polymorphism, Genetic Proteins - genetics TRPP Cation Channels |
| title | Genotypes of autosomal dominant polycystic kidney disease in Japanese |
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