Abstract
Several groups recently reported DNA markers on chromosome 7 in linkage with the locus of the cystic fibrosis (CF) mutation. From the linkage data collected to date probes pJ3.11 and met appear to be sufficiently close to the CF locus (each with about 1% of recombination in approx. 400 meioses studied) to be used in diagnosis. They can be applied in prenatal diagnosis and carrier detection in informative families with an affected child. As an illustration we present the first diagnosis on CF by DNA markers carried out prenatally in the Netherlands. In the family involved one parent appeared to be heterozygous for met D and the other for pJ3.11, both on TaqI-restricted DNA. Their affected child appeared to be homozygous for both probes, whereas DNA isolated from a chorionic villus biopsy at 11 weeks pregnancy showed heterozygosity for both pJ3.11 and met D. Our risk calculations assuming a 3% recombination frequency between 3.11 and the CF locus, and a 4% between met and CF, resulted in a greater than 99.5% probability for the foetus to be non-affected.
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Buys, C., ten Kate, L., Penninga, D. et al. 63 PRENATAL DIAGNOSIS OF CYSTIC FIBEOSIS BY LINKED DNAPROBES. Pediatr Res 20, 1044 (1986). https://doi.org/10.1203/00006450-198610000-00117
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DOI: https://doi.org/10.1203/00006450-198610000-00117
