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      Population Genetics of Alport’s Syndrome

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          Abstract

          The diagnosis of Alport’s syndrome is generally not considered in the absence of a positive family history. Family studies indicate that transmission occurs by a rare autosomal dominant gene. The deviation of transmission ratios from the classical Mendelian pattern is best explained by abnormal segregation. Based on observed pedigree data, calculations were made of the expected equilibrium population frequency of Alport’s syndrome assuming mutation rates of zero, 10, and 50 per million gametes. Zero mutation rate should result in disappearance of the Alport gene. An equilibrium frequency corresponding to that actually observed in Rhode Island implies a mutation rate of 10 per million gametes. Furthermore, up to 18% of all newborns with the Alport genotype may represent new mutants. Thus, isolated cases of Alport’s syndrome may occur in the absence of other affected family members.

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          Author and article information

          Journal
          NEF
          Nephron
          10.1159/issn.1660-8151
          Nephron
          S. Karger AG
          1660-8151
          2235-3186
          1976
          1976
          28 November 2008
          : 16
          : 6
          : 427-432
          Affiliations
          Comprehensive Sickle Cell Center, University of Chicago, Department of Pediatrics, University of Chicago – Pritzker School of Medicine, and Pediatric Nephrology Service, La Rabida Children’s Hospital and Research Center, Chicago, Ill.
          Article
          180666 Nephron 1976;16:427–432
          10.1159/000180666
          1264314
          © 1976 S. Karger AG, Basel

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          Page count
          Pages: 6
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