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Caracterización molecular de alelos ABO*O del locus de grupo sanguíneo ABO en tres poblaciones chilenas / Molecular Characterization of ABO*O Alleles at the ABO Group Locus in Three Chilean Populations
Llop R., Elena; Henríquez B., Hugo; Moraga V., Mauricio; Castro D., Mario; Rothhammer E., Francisco.
  • Llop R., Elena; Universidad de Chile. Facultad de Medicina. Instituto de Ciencias Biomédicas. Genética Humana. Santiago. CL
  • Henríquez B., Hugo; Universidad de Chile. Facultad de Medicina. Instituto de Ciencias Biomédicas. Genética Humana. Santiago. CL
  • Moraga V., Mauricio; Universidad de Chile. Facultad de Medicina. Instituto de Ciencias Biomédicas. Genética Humana. Santiago. CL
  • Castro D., Mario; Universidad de Chile. Facultad de Medicina. Instituto de Ciencias Biomédicas. Morfología. Santiago. CL
  • Rothhammer E., Francisco; Universidad de Tarapacá. Arica. CL
Rev. méd. Chile ; 134(7): 833-840, jul. 2006. ilus, tab
Article in Spanish | LILACS | ID: lil-434583
ABSTRACT

Background:

Among the allelic variants of blood groups, the molecular characterization of ABO blood group has clinical and anthropological importance.

Aim:

To perform a characterization of the molecular variants of the allele ABO*O of the ABO blood group. Material and

methods:

Eighty four subjects of Aymara origin, living in Northern Chile, 75 individuals of Huilliche origin, living in Southern Chile and 82 subjects living in Santiago (Central Chile), were studied. All individuals were of group O, homozygotes for G261- deletion, that defines O1 alleles. Mutations G188A, G261-, G542A, T646A and C771T, described for alleles O1, O1variant and G542A were determined by PCR-RFLP (polymerase chain reaction-restriction fragment lenght polymorphism).

Results:

Allele O1variant has frequencies of 0.65, 0.81 and 0.6 in Aymara, Huilliche and Santiago subjects, respectively. The figures for allele O1 are 0.35, 0.19 and 0.4, respectively and those for the allele with G542A mutation are 0.119, 0.113 and 0.079, respectively.

Conclusions:

These results are concordant with the reported higher frequency of allele O1variant in South American aboriginal populations. The frequencies of G542A allele in these Chilean individuals are lower than those described for Amazon aborigines.
Subject(s)
Full text: Available Index: LILACS (Americas) Main subject: Genetic Variation / ABO Blood-Group System / Indians, South American / Gene Frequency / Mutation Limits: Humans Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2006 Type: Article / Project document Affiliation country: Chile Institution/Affiliation country: Universidad de Chile/CL / Universidad de Tarapacá/CL

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Full text: Available Index: LILACS (Americas) Main subject: Genetic Variation / ABO Blood-Group System / Indians, South American / Gene Frequency / Mutation Limits: Humans Country/Region as subject: South America / Chile Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2006 Type: Article / Project document Affiliation country: Chile Institution/Affiliation country: Universidad de Chile/CL / Universidad de Tarapacá/CL