Nov 4, 1985

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

Nature
B J WainwrightR Williamson

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 known, although membrane transport phenomena associated with CF have been described recently. 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 locus. Eiberg et al. 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 known. Linkage to a DNA probe, DOCR1-917, was also recently found at a genetic distance of approximately 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.

Mentioned in this Paper

Aryldialkylphosphatase
Establishment and Maintenance of Localization
DNA Probes
Chromosomes, Human
Cystic Fibrosis
Thyroid Hormone Plasma Membrane Transport Defect
Arylesterase
Etiology
Genome Mapping
Genetic Inheritance

About this Paper

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