Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1991 Jun; 28(6): 398–401.
PMCID: PMC1016905

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 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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (508K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Young ID, Harper PS, Archer IM, Newcombe RG. A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity. J Med Genet. 1982 Dec;19(6):401–407. [PMC free article] [PubMed]
  • Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet. 1980;56(2):221–223. [PubMed]
  • Archer IM, Young ID, Rees DW, Oladimeji A, Wusteman FS, Harper PS. Carrier detection in Hunter syndrome. Am J Med Genet. 1983 Sep;16(1):61–69. [PubMed]
  • Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Ann Hum Genet. 1986 Oct;50(Pt 4):349–360. [PubMed]
  • Tønnesen T. The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers. Hum Genet. 1984;66(2-3):212–216. [PubMed]
  • Zlotogora J, Schaap T, Zeigler M, Bach G. Hunter syndrome among Ashkenazi Jews in Israel; evidence for prenatal selection favoring the Hunter allele. Hum Genet. 1985;71(4):329–332. [PubMed]
  • MORTON NE. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959 Mar;11(1):1–16. [PMC free article] [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • OMIM
    OMIM record citing PubMed
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...