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Usefulness of linkage disequilibrium of KM‐19 and XV‐2c DNA probes for genetic counselling in a high‐risk cf family
Author(s) -
Chomel J. C.,
Haliassos A.,
Tesson L.,
Mathieu M.,
Kaplan J. C.,
Kitzis A.
Publication year - 1989
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970090410
Subject(s) - linkage disequilibrium , haplotype , genetic counseling , genetics , restriction fragment length polymorphism , allele , disequilibrium , linkage (software) , mutation , biology , medicine , genotype , gene , surgery
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.