{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T13:32:28Z","timestamp":1768483948450,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jmg.28.6.398","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"398-401","source":"Crossref","is-referenced-by-count":12,"title":["Segregation and sporadic cases in families with Hunter's syndrome."],"prefix":"10.1136","volume":"28","author":[{"given":"G","family":"Machill","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Barbujani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G A","family":"Danieli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F H","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,6,1]]},"reference":[{"key":"ref_1","first-page":"401","article-title":"A clinical and genetic study of Hunter syndrome. 1. 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Biochemische Diagnostik der Mukopolysaccharidspeicherkrankheiten durch den Nachweis intrazellularer 3 S-Sulfatspeicherung. Z Klin Med 1985;40: 1685-8.","journal-title":"Z Klin Med"},{"key":"ref_7","first-page":"277","article-title":"Die metabolische Kreuzkorrektur zur Typisierung der Mukopolysaccharidosen","volume":"45","author":"Machill, G.; Petruschka, L.; Wehnert, M.","year":"1985","unstructured":"Machill G, Petruschka L, Wehnert M. Die metabolische Kreuzkorrektur zur Typisierung der Mukopolysaccharidosen. Ergebn Exp Med 1985;45:277-83.","journal-title":"Ergebn Exp Med"},{"key":"ref_8","first-page":"1","article-title":"Genetic tests under incomplete ascertainment. AmJ7 Hum Genet","volume":"11","author":"Morton, N.E.","year":"1959","unstructured":"Morton NE. Genetic tests under incomplete ascertainment. AmJ7 Hum Genet 1959;11:1-16."},{"key":"ref_9","first-page":"62","article-title":"Methods in genetic epidemiology","author":"Morton, N.E.; Rao, D.C.; Lalouel, J.M.","year":"1983","unstructured":"Morton NE, Rao DC, Lalouel JM. Methods in genetic epidemiology. Basel: Karger, 1983:62-9."},{"key":"ref_10","series-title":"and epidemiology of chronic diseases","first-page":"23","article-title":"Problems of ascertainment in the analysis of family data","author":"Crow, J.F.","year":"1965","unstructured":"Crow JF. Problems of ascertainment in the analysis of family data. In: Neel JV, Shaw MW, Schull WJ, eds. Genetics and epidemiology of chronic diseases. 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