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Cystic fibrosis typing with DNA probes: experience of a screening laboratory
Authors:Ann Harris  Caroly Quinlan  Martin Bobrow
Institution:(1) Paediatric Research Unit, United Medical and Dental Schools of Guy's and St. Thomas' Hospitals, 8th Floor Guy's Tower, London Bridge, SE1 9RT London, UK
Abstract:Summary A sample of 125 individuals from 37 British cystic fibrosis (CF) families with at least one living affected child were typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene. These probes were MetD, MetH, pJ3.11 and 7C22. Using this combination of probes, 30 out of the 37 families were sufficiently informative to enable prenatal diagnosis of the disease. Linkage analysis has also proved to be useful in excluding CF in two cases where diagnosis of the disease was equivocal in the sibling of an affected child.
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