{"title":"委内瑞拉安第斯地区人群的α -1抗胰蛋白酶等位基因频率","authors":"T Fonseca-Pérez, M González-Coira, S Arias","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>PI phenotypes were determined by isolelectric focusing in a Venezuelan mixed population (the center point of the geographical area investigated being Apartaderos, State of Mérida, Venezuela). Six alleles were found, four normal and two risk-predisposing with the following frequencies: PI*M1 (80.5%), PI*M2 (7.0%), PI*M3 (6.2%), an anodic allele here referred to as PI*\"AN' (0.2%), PI*S (5.0%) and PI*Z (0.9%). The latter, unlike the others, was found only in 10% of the area considered, where it had a polymorphic frequency of 2.1%, reflecting a probable geographic isolation and/or a cultural influence in mating choice. In this population the alleles predisposing to risk are most probably of Caucasoid origin (\"Spanish' genes). The PI*Z and PI*S frequencies may be attributed to random genetic drift characterized by an important founder phenomenon and to population admixture (Amerindian and Spanish), respectively. The PI*S allele may be considered a very good marker for the Caucasoid contribution to the overall mixed population of Venezuela.</p>","PeriodicalId":77141,"journal":{"name":"Gene geography : a computerized bulletin on human gene frequencies","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1996-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"PI locus (alpha-1-antitrypsin) allelic frequencies in an Andean Venezuelan population.\",\"authors\":\"T Fonseca-Pérez, M González-Coira, S Arias\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>PI phenotypes were determined by isolelectric focusing in a Venezuelan mixed population (the center point of the geographical area investigated being Apartaderos, State of Mérida, Venezuela). Six alleles were found, four normal and two risk-predisposing with the following frequencies: PI*M1 (80.5%), PI*M2 (7.0%), PI*M3 (6.2%), an anodic allele here referred to as PI*\\\"AN' (0.2%), PI*S (5.0%) and PI*Z (0.9%). The latter, unlike the others, was found only in 10% of the area considered, where it had a polymorphic frequency of 2.1%, reflecting a probable geographic isolation and/or a cultural influence in mating choice. In this population the alleles predisposing to risk are most probably of Caucasoid origin (\\\"Spanish' genes). The PI*Z and PI*S frequencies may be attributed to random genetic drift characterized by an important founder phenomenon and to population admixture (Amerindian and Spanish), respectively. The PI*S allele may be considered a very good marker for the Caucasoid contribution to the overall mixed population of Venezuela.</p>\",\"PeriodicalId\":77141,\"journal\":{\"name\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1996-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene geography : a computerized bulletin on human gene frequencies","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
PI locus (alpha-1-antitrypsin) allelic frequencies in an Andean Venezuelan population.
PI phenotypes were determined by isolelectric focusing in a Venezuelan mixed population (the center point of the geographical area investigated being Apartaderos, State of Mérida, Venezuela). Six alleles were found, four normal and two risk-predisposing with the following frequencies: PI*M1 (80.5%), PI*M2 (7.0%), PI*M3 (6.2%), an anodic allele here referred to as PI*"AN' (0.2%), PI*S (5.0%) and PI*Z (0.9%). The latter, unlike the others, was found only in 10% of the area considered, where it had a polymorphic frequency of 2.1%, reflecting a probable geographic isolation and/or a cultural influence in mating choice. In this population the alleles predisposing to risk are most probably of Caucasoid origin ("Spanish' genes). The PI*Z and PI*S frequencies may be attributed to random genetic drift characterized by an important founder phenomenon and to population admixture (Amerindian and Spanish), respectively. The PI*S allele may be considered a very good marker for the Caucasoid contribution to the overall mixed population of Venezuela.