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Author Acuna, M.; Eaton, L.; Cifuentes, L. pdf  url
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  Title Genetic variants of the paraoxonases (PON1 and PON2) in the Chilean population Type
  Year 2004 Publication Human Biology Abbreviated Journal Hum. Biol.  
  Volume 76 Issue 2 Pages 299-305  
  Keywords PON1; PON2; paraoxonase; Chilean population; Amerindian admixture; coronary artery disease  
  Abstract We estimated the frequencies of PON1 and PON2 variants (linked genes) in two hospital samples taken from the northern (San Jose Hospital, SJH) and eastern (Clinica Las Condes, CLC) parts of Santiago, Chile, using the polymerase chain reaction followed by restriction endonuclease digestion. The two hospital samples have different degrees of Amerindian admixture (SJH, 34.5%; CLC, 15.9%), which is reflected in the observed frequencies of the PON1*B allele (SJH, 43.1%; CLC, 33.7%) and the PON2*S allele (SJH, 86.3%; CLC, 77.6%); both allele frequencies are significantly different between samples. The frequencies of the combined PON1-PON2 genotypes *A/*B-*C/*C, *A/*B-*S/*S, and *B/*B-*S/*S and of the haplotypes PON*A,C and PON*B,S were significantly different between the SJH and CLC groups. None of the genotype frequencies deviated significantly from those predicted by the Hardy-Weinberg equation. No linkage disequilibrium was found between the PON1 alleles and any of the PON2 alleles in either group (all p > 0.05). In our samples 38.52% (SJH) and 26.25% (CLC) of chromosomes must have the haplotype PON*B,S, presumed to be related to the risk of coronary artery disease. Twenty-four of 193 (12.4%) SJH individuals and 7 of 122 (5.7%) CLC individuals were homozygotes for this haplotype. Finally, our data indicate ethnic-group-dependent genetic differences in the vulnerability to toxic organophosphorus.  
  Address Univ Chile, Genet Program, ICBM, Santiago 7, Chile  
  Corporate Author Thesis  
  Publisher Wayne State Univ Press Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0018-7143 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000223036000009 Approved  
  Call Number UAI @ eduardo.moreno @ Serial 36  
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Author Acuna, M.; Eaton, L.; Ramirez, N.R.; Cifuentes, L.; Llop, E. pdf  doi
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  Title Genetic variants of serum butyrylcholinesterase in Chilean Mapuche Indians Type
  Year 2003 Publication American Journal Of Physical Anthropology Abbreviated Journal Am. J. Phys. Anthropol.  
  Volume 121 Issue 1 Pages 81-85  
  Keywords plasma butyrylcholinesterase; BCHE locus; genetic variants; Mapuche Indians  
  Abstract We estimated the frequencies of serum butyrylcholinesterase (BChE) alleles in three tribes of Mapuche Indians from southern Chile, using enzymatic methods, and we estimated the frequency of allele BCHE*K in one tribe using primer reduced restriction analysis (PCR-PIRA). The three tribes have different degrees of European admixture, which is reflected in the observed frequencies of the atypical allele BCHE*A: 1.11% in Huilliches, 0.89% in Cuncos, and 0% in Pehuenches. This result is evidence in favor of the hypothesis that BCHE*A is absent in native Amerindians. The frequencies of BCHE*F were higher than in most reported studies (3.89%, 5.78%, and 4.41%, respectively). These results are probably due to an overestimation of the frequency of allele BCHE*F, since none of the 20 BCHE UF individuals (by the enzymatic test) individuals analyzed showed either of the two DNA base substitutions associated with this allele. Although enzymatic methods rarely detect the presence of allele BCHE*K, PCR-PIRA found the allele in an appreciable frequency (5.76%), although lower than that found in other ethnic groups. Since observed frequencies of unusual alleles correspond to estimated percentages of European admixture, it is likely that none of these unusual alleles were present in Mapuche Indians before the arrival of Europeans. (C) 2003 Wiley-Liss, Inc.  
  Address Univ Santiago Chile, Fac Med, Programa Genet, ICBM, Santiago 70061 7, Chile, Email: macuna@machi.med.uchile.cl  
  Corporate Author Thesis  
  Publisher Wiley-Liss Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0002-9483 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000182336300010 Approved  
  Call Number UAI @ eduardo.moreno @ Serial 37  
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