Localization of cystic fibrosis locus to human chromosome 7cen–q22

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.

[1]  P. Quinton,et al.  Higher bioelectric potentials due to decreased chloride absorption in the sweat glands of patients with cystic fibrosis. , 1983, The New England journal of medicine.

[2]  A. Young,et al.  A polymorphic DNA marker genetically linked to Huntington's disease , 1983, Nature.

[3]  J. Chotai,et al.  On the lod score method in linkage analysis , 1984, Annals of human genetics.

[4]  G. Forstner Cystic Fibrosis: Horizons , 1985 .

[5]  K. Davies,et al.  Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. , 1983, Nucleic acids research.

[6]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[7]  R. Williamson,et al.  The structural gene for human coagulation factor X is located on chromosome 13q34. , 1985, Cytogenetics and cell genetics.

[8]  N. Morton Sequential tests for the detection of linkage. , 1955, American journal of human genetics.

[9]  R. Nussbaum,et al.  Sporadic occurrence of Duchenne Muscular Dystrophy: evidence for new mutation , 1980, Clinical genetics.

[10]  K. Davies,et al.  A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 , 1985, Nature.

[11]  N. Blackwell,et al.  LOCUS FOR CYSTIC FIBROSIS , 1984, The Lancet.

[12]  A. Børresen,et al.  Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. , 1984, American journal of human genetics.

[13]  H. Eiberg,et al.  Linkage relationships of paraoxonase (PON) with other markers: indication of PON‐cystic fibrosis synteny , 1985, Clinical genetics.