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Publication : A closely linked genetic marker for cystic fibrosis.

First Author  White R Year  1985
Journal  Nature Volume  318
Issue  6044 Pages  382-4
PubMed ID  3906407 Mgi Jnum  J:23856
Mgi Id  MGI:71744 Doi  10.1038/318382a0
Citation  White R, et al. (1985) A closely linked genetic marker for cystic fibrosis. Nature 318(6044):382-4
abstractText  Cystic fibrosis is a recessive genetic disorder, characterized clinically by chronic obstructive lung disease, pancreatic insufficiency and elevated sweat electrolytes; affected individuals rarely live past their early twenties. Cystic fibrosis is also one of the most common genetic diseases in the northern European population. The frequency of carriers of mutant alleles in some populations is estimated to be as high as 1 in 20, carrying a concomitant burden of about one affected child in 1,500 births. Because little is known of the essential biochemical defect caused by the mutant gene, a genetic linkage approach based on arbitrary genetic markers and family studies is indicated to determine the chromosomal location of the cystic fibrosis (CF) gene. We have now obtained evidence for tight linkage between the CF locus and a DNA sequence polymorphism at the met oncogene locus. This evidence, combined with the physical localization data for the met locus presented in the accompanying paper, places the CF locus in the middle third of the long arm of chromosome 7, probably between bands q21 and q31.
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