9
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Von Hippel-Lindau disease: a genetic study.

      Journal of Medical Genetics
      Adult, Birth Order, England, epidemiology, Fertility, Genes, Dominant, Genetic Linkage, Heterozygote, Humans, Incidence, Middle Aged, Mutation, Parents, Prevalence, Risk, von Hippel-Lindau Disease, genetics

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.

          Related collections

          Author and article information

          Journal
          1895313
          1016952
          10.1136/jmg.28.7.443

          Chemistry
          Adult,Birth Order,England,epidemiology,Fertility,Genes, Dominant,Genetic Linkage,Heterozygote,Humans,Incidence,Middle Aged,Mutation,Parents,Prevalence,Risk,von Hippel-Lindau Disease,genetics

          Comments

          Comment on this article