Iris Körner, Britta Fischer, Rolf Beetz, Karin Buiting, Anne-Margret Wingen, Herbert Rübben, Thomas F. Wienker, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach
{"title":"Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux","authors":"Iris Körner, Britta Fischer, Rolf Beetz, Karin Buiting, Anne-Margret Wingen, Herbert Rübben, Thomas F. Wienker, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach","doi":"10.1002/1438-826X(200012)1:5/6<202::AID-GNFD202>3.0.CO;2-5","DOIUrl":null,"url":null,"abstract":"<p>Primary vesicoureteral reflux (VUR) affects approximately 1−2% of the general population and is a common cause of end-stage renal failure in children. VUR appears to have a genetic basis and several loci including the Angiotensin Type 2 Receptor Gene (<i>AGTR2</i>) on the X chromosome have been suggested. Using single-strand conformation analysis (SSCA) we typed 103 DNA samples from 17 families with two or more affected individuals for the presence of a splice site mutation in the <i>AGTR2</i> gene. Linkage analysis revealed a parametric LOD score of −3.977 and a NPL-score of −6,522 by affected-only analysis. Our family-data do not support linkage of VUR to the <i>AGTR2</i>.</p>","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":"1 5-6","pages":"202-207"},"PeriodicalIF":0.0000,"publicationDate":"2001-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1438-826X(200012)1:5/6<202::AID-GNFD202>3.0.CO;2-5","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Function & Disease","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/1438-826X%28200012%291%3A5/6%3C202%3A%3AAID-GNFD202%3E3.0.CO%3B2-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Primary vesicoureteral reflux (VUR) affects approximately 1−2% of the general population and is a common cause of end-stage renal failure in children. VUR appears to have a genetic basis and several loci including the Angiotensin Type 2 Receptor Gene (AGTR2) on the X chromosome have been suggested. Using single-strand conformation analysis (SSCA) we typed 103 DNA samples from 17 families with two or more affected individuals for the presence of a splice site mutation in the AGTR2 gene. Linkage analysis revealed a parametric LOD score of −3.977 and a NPL-score of −6,522 by affected-only analysis. Our family-data do not support linkage of VUR to the AGTR2.
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