Usefulness of linkage disequilibrium of KM‐19 and XV‐2c DNA probes for genetic counselling in a high‐risk cf family | Zendy

Chomel J. C. | Zendy; Haliassos A. | Zendy; Tesson L. | Zendy; Mathieu M. | Zendy; Kaplan J. C. | Zendy; Kitzis A. | Zendy

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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.

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