Segregation and sporadic cases in families with Hunter's syndrome

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 mutatio...

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Bibliographic Details
Published in:Journal of medical genetics 1991-06, Vol.28 (6), p.398-401
Main Authors: Machill, G, Barbujani, G, Danieli, G A, Herrmann, F H
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Female
Gene Frequency
Genetic Linkage
glycosaminoglycans
Humans
Infant
Male
Medical genetics
Medical sciences
Meiosis
Mucopolysaccharidosis II - genetics
Mutation
Pregnancy
Selection, Genetic
X Chromosome
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Summary: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 families, whose segregation pattern has previously been interpreted as supporting the hypothesis of prenatal selection in favour of the pathological allele. Conversely, our joint analysis of the five samples by a maximum likelihood approach does not suggest segregation distortion. Possible reasons for the apparent lack of sporadic cases include the effect of ascertainment bias.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.6.398