title: Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.
abstract: We have studied a family in which both cystic fibrosis (CF) and an unbalanced translocation between chromosomes 6 and 13 are found. As CF occurs in the child who is effectively monosomic for the translocated part of the long arm of chromosome 13, it was suggested that the locus of the gene mutation causing CF is on chromosome 13q34. The gene for human coagulation factor X is located at 13q34, and we have found a restriction fragment length polymorphism (RFLP) that is revealed by a cloned cDNA coding for this protein. Linkage analysis in eight CF families shows no evidence of cosegregation between CF and the gene for factor X, strongly suggesting that the locus for the defect causing cystic fibrosis is not at 13q34.
mesh_terms: D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D003550:Cystic Fibrosis / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005170:Factor X / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers; D005170:Factor X; D004262:DNA Restriction Enzymes