冯·希佩尔-林道病：一项遗传学研究。
Von Hippel-Lindau disease: a genetic study.
作者信息
Maher E R, Iselius L, Yates J R, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith M A, Morton N
机构信息
Cambridge University, Department of Pathology.
出版信息
J Med Genet. 1991 Jul;28(7):443-7. doi: 10.1136/jmg.28.7.443.
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.
摘要
对家族性和散发性冯·希佩尔-林道（VHL）病的遗传因素进行了研究。对38个有两名或更多患病成员的家族进行了带指针的复杂分离分析。证实了显性遗传，在最高年龄组中几乎完全显性（51至60岁时为0.96，61至70岁时为0.99），并且没有证据表明通过完全和不完全选择确定的家族之间存在异质性。东安格利亚杂合子的点患病率为1.89/100,000（1/53,000）人，估计出生发病率为2.73/100,000（1/36,000）活产。生殖适合度为0.83。突变率的直接和间接估计分别为4.4（95%可信区间0.9至7.9）×10⁻⁶/基因/代和2.32×10⁻⁶/基因/代。VHL病的亲代年龄或出生顺序与新突变之间没有显著关联。
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