Article
Segregation and sporadic cases in families with Hunter's syndrome.
Journal of medical genetics - 1 Jun 1991
Machill G, Barbujani G, Danieli G A, Herrmann F H
Abstract excerpt
Segregation analysis on five samples of families with Hunter's syndrome (158 cases overall) shows that the mutant allele segregates in agreement with Mendelian expectations for an X linked recessive disease, but the proportion of sporadic cases is significantly lower than expected under mutation-selection equilibrium. Heterogeneity among the samples is apparent, but it is caused entirely by a sample of Ashkenazi...
Topics
- Alleles
- Female
- Gene Frequency
- Genetic Linkage
- Humans
- Infant
- Male
- Meiosis
- Mucopolysaccharidosis II
- Mutation
- Pregnancy
- Selection, Genetic