Localization of cystic fibrosis locus to human chromosome 7cen–q22
Open Access
- 1 November 1985
- journal article
- letter
- Published by Springer Nature in Nature
- Vol. 318 (6044) , 384-385
- https://doi.org/10.1038/318384a0
Abstract
Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of approximately 1 in 20. The biochemical basis of the disease is not known1, although membrane transport phenomena associated with CF have been described recently2. Consanguinity studies have shown that the inheritance of CF is consistent with it being a recessive defect caused by a mutation at a single autosomal locus3. Eiberg et al.4 have reported a genetic linkage between the CF locus and a polymorphic locus controlling activity of the serum aryl esterase paraoxonase (PON). The chromosomal location of PON, however, is not known4. Linkage to a DNA probe, DOCR1-917, was also recently found at a genetic distance of ∼15 centimorgans (L.-C. Tsui and H. Donnis-Keller, personal communication), but no chromosomal localization was given. Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen–q22.Keywords
This publication has 12 references indexed in Scilit:
- Linkage relationships of paraoxonase (PON) with other markers: indication of PON‐cystic fibrosis syntenyClinical Genetics, 1985
- A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16Nature, 1985
- An estimate of unique DNA sequence heterozygosity in the human genomeHuman Genetics, 1985
- The structural gene for human coagulation factor X is located on chromosome 13q34Cytogenetic and Genome Research, 1985
- On the lod score method in linkage analysisAnnals of Human Genetics, 1984
- Strategies for multilocus linkage analysis in humans.Proceedings of the National Academy of Sciences, 1984
- LOCUS FOR CYSTIC FIBROSISThe Lancet, 1984
- Cystic fibrosis in the Ohio Amish: Gene frequency and founder effectHuman Genetics, 1983
- Higher Bioelectric Potentials Due to Decreased Chloride Absorption in the Sweat Glands of Patients with Cystic FibrosisNew England Journal of Medicine, 1983
- Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutationClinical Genetics, 1980