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Carrier prediction of cystic fibrosis in 36 families by means of restriction fragment length polymorphism.

par Simon, Philippe ;Brocas, Huguette;Baran, Dana;Van Geffel, René ;Rodesch, Frédéric ;Vassart, Gilbert
Référence European journal of pediatrics, 147, 2, page (199-201)
Publication Publié, 1988-02

Article révisé par les pairs

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Résumé :

Transmission of cystic fibrosis (CF) was studied in 36 families with at least one affected and one unaffected child. DNA was prepared from peripheral leukocytes and submitted to restriction fragment length polymorphism (RFLP) analysis with two CF probes (pj3.11 and met). Twenty families were shown to be informative so that accurate predictions could be made of the status of the offspring. Sixteen were only partially informative. The allele frequency was similar to that originally reported except for one Msp I site detected with the pj3.11 probe, for which we found a significantly higher heterozygote frequency, making it more informative than expected in our population sample. Pedigree analysis demonstrated no obligate recombinant between CF and the polymorphic markers.