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Cystic fibrosis typing with DNA probes: experience of a screening laboratory (1988)

Harris, Ann ; Quinlan, Caroly ; Bobrow, Martin

Springer

Human genetics 〈Berlin〉 79 (1988), S. 76-79

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00291715

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