The use of fructose 1-phosphate to detect Hunter heterozygotes in fibroblast cultures from high-risk carriers.
Fibroblast cultures from 49 possible Hunter disease carriers were collected. These cultures were analysed for the incorporation of 35S-sulphate into acid mucopolysaccharides in the presence and the absence of fructose 1-phosphate. For 10 of these women more than one abnormal result was observed, when two or three cultures from each individual were tested. For six additional women only one abnormal result was found, when three cultures for each of these females were analysed. The implication that just one abnormal result indicates carriership stems from the observation that 24 out of 25 obligate carriers have been confirmed by this criterion (Tønnesen et al. 1983). By mean of the same criterion we have thus established carriership for 16 possible carriers. From genetic inference three additional carriers were found among the females showing normal results in the fibroblast cultures. As a test of the reliability of the method, analyses of the tested informative female offspring of Hunter carriers showed 20 of 38 informative females to be carriers.
D002478:Cells, Cultured; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005636:Fructosephosphates / Q000378:metabolism*; D006580:Genetic Carrier Screening / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011336:Probability; D012306:Risk; D012867:Skin / Q000166:cytology
D005636:Fructosephosphates; C032284:fructose-1-phosphate