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RESEARCH PRODUCT
Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux
Iris KörnerBernhard HorsthemkeKarin BuitingHerbert RübbenBritta FischerThomas F. WienkerAnne-margret WingenGabriele Gillessen-kaesbachRolf Beetzsubject
Linkage (software)Geneticseducation.field_of_studySplice site mutationPopulationBiologyurologic and male genital diseasesmedicine.diseaseVesicoureteral refluxGenetic linkageGeneticsmedicineeducationGeneGenetics (clinical)X-linked recessive inheritanceX chromosomedescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2000-12-01 | Gene Function & Disease |