| Literature DB >> 1895313 |
E R Maher1, L Iselius, J R Yates, M Littler, C Benjamin, R Harris, J Sampson, A Williams, M A Ferguson-Smith, N Morton.
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.Entities:
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Year: 1991 PMID： 1895313 PMCID： PMC1016952 DOI： 10.1136/jmg.28.7.443
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318