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| VONHIPPEL-LINDAU DISEASE - A GENETIC-STUDY |
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| Author(s): MAHER ER, ISELIUS L, YATES JRW, LITTLER M, BENJAMIN C, HARRIS R, SAMPSON J, WILLIAMS A, FERGUSONSMITH MA, MORTON N |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 28 Issue: 7 Pages: 443-447 Published: JUL 1991 |
| Times Cited: 198 References: 34 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CAMBRIDGE, DEPT PATHOL, CAMBRIDGE, ENGLAND
2. UNIV SOUTHAMPTON, CRC, GENET EPIDEMIOL RES GRP, SOUTHAMPTON SO9 5NH, HANTS ENGLAND
3. UNIV MANCHESTER, DEPT MED GENET, MANCHESTER M13 9PL, LANCS ENGLAND
4. UNIV COLL CARDIFF, INST MED GENET WALES, CARDIFF CF4 4XN, S GLAM WALES |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: FU617 |
| ISSN: 0022-2593 |
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