Hypothesis: a selective advantage for cystic fibrosis heterozygotes. 1987

R S Meindl
Department of Anthropology, Kent State University, Ohio 44242.

European populations have both a particularly long history of pulmonary tuberculosis and extremely high frequencies of cystic fibrosis (CF). While carriers of the recessive gene are asymptomatic for CF disease, their fibroblasts produce excessive amounts of hyaluronic acid, whose role in successful isolation of virulent pathogens appears to be especially adaptive in host resistance to the human strain of Mycobacterium tuberculosis. CF heterozygosity may have been an adaptation to a disease environment once dominated by this infection.

UI MeSH Term Description Entries
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D005060 Europe The continent north of AFRICA, west of ASIA and east of the ATLANTIC OCEAN. Northern Europe,Southern Europe,Western Europe
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006820 Hyaluronic Acid A natural high-viscosity mucopolysaccharide with alternating beta (1-3) glucuronide and beta (1-4) glucosaminidic bonds. It is found in the UMBILICAL CORD, in VITREOUS BODY and in SYNOVIAL FLUID. A high urinary level is found in PROGERIA. Amo Vitrax,Amvisc,Biolon,Etamucine,Healon,Hyaluronan,Hyaluronate Sodium,Hyvisc,Luronit,Sodium Hyaluronate,Acid, Hyaluronic,Hyaluronate, Sodium,Vitrax, Amo
D000220 Adaptation, Biological Changes in biological features that help an organism cope with its ENVIRONMENT. These changes include physiological (ADAPTATION, PHYSIOLOGICAL), phenotypic and genetic changes. Adaptation, Biologic,Biological Adaptation,Biologic Adaptation
D012641 Selection, Genetic Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population. Natural Selection,Genetic Selection,Selection, Natural
D014397 Tuberculosis, Pulmonary MYCOBACTERIUM infections of the lung. Pulmonary Consumption,Pulmonary Phthisis,Pulmonary Tuberculoses,Pulmonary Tuberculosis,Tuberculoses, Pulmonary,Consumption, Pulmonary,Consumptions, Pulmonary,Phthises, Pulmonary,Phthisis, Pulmonary,Pulmonary Consumptions,Pulmonary Phthises
D049669 History, 16th Century Time period from 1501 through 1600 of the common era. 16th Century History,16th Cent. History (Medicine),16th Cent. History of Medicine,16th Cent. Medicine,Historical Events, 16th Century,History of Medicine, 16th Cent.,History, Sixteenth Century,Medical History, 16th Cent.,Medicine, 16th Cent.,16th Cent. Histories (Medicine),16th Century Histories,Cent. Histories, 16th (Medicine),Cent. History, 16th (Medicine),Century Histories, 16th,Century Histories, Sixteenth,Century History, 16th,Century History, Sixteenth,Histories, 16th Cent. (Medicine),Histories, 16th Century,Histories, Sixteenth Century,History, 16th Cent. (Medicine),Sixteenth Century Histories,Sixteenth Century History

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