Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

• Published in: Science (American Association for the Advancement of Science) Vol. 230; no. 4729; pp. 1054 - 1057
• Main Authors: Tsui, Lap-Chee, Buchwald, Manuel, Barker, David, Braman, Jeffrey C., Knowlton, Robert, Schumm, James W., Eiberg, Hans, Mohr, Jan, Kennedy, Dara, Plavsic, Natasa, Zsiga, Martha, Markiewicz, Danuta, Akots, Gita, Brown, Valerie, Helms, Cynthia, Gravius, Thomas, Parker, Carol, Rediker, Kenneth, Donis-Keller, Helen
• Format: Journal Article
• Language: English
• Published: Washington, DC The American Association for the Advancement of Science 29-11-1985; American Association for the Advancement of Science
• Subjects: Aryldialkylphosphatase; Biological and medical sciences; Causes and theories of causation; Chromosome Mapping; Cloning, Molecular; Cystic fibrosis; Cystic Fibrosis - genetics; Diseases; DNA; DNA probes; DNA Restriction Enzymes; Etiology (Medicine); Gastroenterology. Liver. Pancreas. Abdomen; Genetic aspects; Genetic diseases; Genetic Linkage; Genetic loci; Genetic polymorphism; Human genetics; Human genome; Humans; Linkage (Genetics); Liver. Biliary tract. Portal circulation. Exocrine pancreas; Lod score; Medical genetics; Medical sciences; Other diseases. Semiology; Pedigree; Phosphoric Monoester Hydrolases - genetics; Polymorphism, Genetic; Human; Mucoviscidosis; DNA; Inheritance; Digestive diseases; Physical map; Pancreatic disease
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.2997931

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families, to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in 2000 Caucasian children. The DNA marker (called D0CRI-917) is also linked to the PON locus, which by independent evidence is linked to the CF locus. The best estimates of the genetic distances are 5 centimorgans between the DNA marker and PON and 15 centimorgans between the DNA marker and the CF locus, meaning that the location of the disease gene has been narrowed to about 1 percent of the human genome (about 30 million base pairs). Although the data are consistent with the interpretation that a single locus causes cystic fibrosis, the possibility of genetic heterogeneity remains. The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.