Cystic fibrosis carrier detection using a linked gene probe.
Open Access
- 1 August 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (4) , 295-299
- https://doi.org/10.1136/jmg.23.4.295
Abstract
Cloned DNA markers which are closely linked to the gene defect causing cystic fibrosis have recently been described. These markers are sufficiently informative for carrier detection in 80% of families where there is a living cystic fibrosis child and unaffected sibs. The tightly linked DNA marker pJ3.11 was used in this study to identify carriers in six families and exclude carrier status in two subjects. Risk calculations for recessive diseases using linked DNA probes may be complex, but useful information for counselling can be obtained in this way.This publication has 14 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONSThe Lancet, 1985
- Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA MarkerScience, 1985
- Localization of cystic fibrosis locus to human chromosome 7cen–q22Nature, 1985
- A closely linked genetic marker for cystic fibrosisNature, 1985
- A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7Nature, 1985
- Carrier detection in cystic fibrosisThe Journal of Pediatrics, 1985
- Hypervariable ‘minisatellite’ regions in human DNANature, 1985
- Prenatal diagnosis of cystic fibrosisPrenatal Diagnosis, 1985
- Higher Bioelectric Potentials Due to Decreased Chloride Absorption in the Sweat Glands of Patients with Cystic FibrosisNew England Journal of Medicine, 1983