Segregation and sporadic cases in families with Hunter's syndrome.

AUTOR(ES)

Machill, G

RESUMO

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.

Documentos Relacionados

• Papilloedema in association with Hunter's syndrome.
• Neurogenic bladder in Hunter's syndrome.
• Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.
• A clinical and genetic study of Hunter's syndrome. 1 Heterogeneity
• Disc oedema in association with Hunter's syndrome: ocular histopathological findings.