Usefulness of linkage disequilibrium of KM-19 and XV-2c DNA probes for genetic counselling in a high-risk cf family |
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| Authors: | J C Chomel A Haliassos L Tesson M Mathieu J C Kaplan Dr A Kitzis |
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| Institution: | 1. Laboratoire de Biochimie Génétique, CHU Cochin, 75674 Paris Cedex 14;2. Pédiatrie I, CHRU, 80030 Amiens, France |
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| Abstract: | A French couple with an individual risk of carrying the cystic fibrosis (CF) mutation of 1/2 sought genetic counselling. From the DNA haplotypes generated by XV-2c and KM-19 RFLPs, it could be deduced that only one subject was a carrier, lowering the risk of having a CF baby from 1/16 to 1/200. The strong linkage disequilibrium between these RFLPs and the CF allele observed in France reduced the risk to 1/1600. |
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| Keywords: | Cystic fibrosis Linkage disequilibrium Genetic counselling |
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