{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:39:02Z","timestamp":1763746742221,"version":"build-2065373602"},"reference-count":25,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,9]]},"abstract":"<jats:p>We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive disorders have a wide range of variability: cystic fibrosis has a low incidence and PKU has a similar incidence to English rates. Only 30% of the inborn errors of metabolism have been described in Chilean medical publications. In addition, no Chilean haemoglobin or haptoglobin variants have been described. Some rare inherited diseases in Chilean human isolates have been described, including achromatopsia, chondrocalcinosis, and Creutzfeldt-Jakob disease. The prevalence of intrahepatic cholestasis of pregnancy and supernumerary nipples is the highest in the world and they are associated with aboriginal origin. Single gene defects in Chile are probably shaped by factors related to its ethnic population structure. These local rare single gene defects may be good markers of population admixture for genetic epidemiological studies.<\/jats:p>","DOI":"10.1136\/jmg.31.9.702","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"702-706","source":"Crossref","is-referenced-by-count":23,"title":["Genetic epidemiology of single gene defects in Chile."],"prefix":"10.1136","volume":"31","author":[{"given":"R","family":"Cruz-Coke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,9,1]]},"reference":[{"key":"ref_1","first-page":"15","article-title":"The ethnic distribution of disease in the United States","volume":"1","author":"McKusick, V.A.","year":"1967","unstructured":"McKusick VA. The ethnic distribution of disease in the United States. J Chron Dis 1967;20:1 15-18.","journal-title":"J Chron Dis"},{"key":"ref_2","first-page":"365","article-title":"Origen y evolucion etnica de la poblacion chilena","volume":"104","author":"Cruz-Coke, R.","year":"1976","unstructured":"Cruz-Coke R. Origen y evolucion etnica de la poblacion chilena. Rev Med Chile 1976;104:365-9.","journal-title":"Rev Med Chile"},{"key":"ref_3","article-title":"Mendelian inheritance i.n niian. Catalog of autosonpial doniz.nant, autosonial recessive, and X-linkedphenot7pes","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance i.n niian. Catalog of autosonpial doniz.nant, autosonial recessive, and X-linkedphenot7pes. Baltimore: Johns Hopkins University Press, 1992."},{"key":"ref_4","article-title":"Birth defects encyclopedia","author":"Buyse, M.L.","year":"1990","unstructured":"Buyse ML. Birth defects encyclopedia. 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Caracterizacion genetica de la poblacion hospitalaria de Santiago. Rev Med Chile 1988;116:28-33.","journal-title":"Rev Med Chile"},{"key":"ref_8","first-page":"431","article-title":"Migration in a population of Valparaiso, Chile","volume":"18","author":"Pinto-Cisternas, J.; Salinas, C.; Campusano, C.; Figueroa, M.; Lazo, B.","year":"1971","unstructured":"Pinto-Cisternas J, Salinas C, Campusano C, Figueroa M, Lazo B. Migration in a population of Valparaiso, Chile. Soc Biol 1971;18:431-6.","journal-title":"Soc Biol"},{"key":"ref_9","first-page":"1209","article-title":"Sistemas sanguineos ABO y Rhesus en personas de estrato socioeconomico medio y alto","volume":"109","author":"Pinto, G.; Ilic, P.; Paredes, L.; Valenzuela, C.Y.","year":"1981","unstructured":"Pinto G, Ilic P, Paredes L, Valenzuela CY. Sistemas sanguineos ABO y Rhesus en personas de estrato socioeconomico medio y alto. 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