Iris Körner, Britta Fischer, Rolf Beetz, Karin Buiting, Anne-Margret Wingen, Herbert Rübben, Thomas F. Wienker, Bernhard Horsthemke, Gabriele Gillessen-Kaesbach
{"title":"快速检测血管紧张素2型受体基因变异:无证据表明与原发性膀胱输尿管反流相关","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":"{\"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}","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}
Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
