title: HLA-G 3'-UTR SNP and 14-bp deletion polymorphisms in Portuguese and Guinea-Bissau populations.
abstract: In the HLA-G locus, the 3'-untranslated region (3'-UTR) begins in the mid exon 6, and ends in exon 8. The occurrence of a 14-bp deletion within exon 8, the only mutation known until now in the 3'-UTR, has been considered a risk factor for disease and allograft rejection. To describe the polymorphism within this region, direct sequencing analysis was performed on 120 DNA samples from Portugal and Guinea-Bissau. Results indicate that exon 8 is less conserved than the coding exons. Nine single nucleotide polymorphisms and the previously described 14-bp deletion were found within exon 8 of both populations. Molecular diversity was higher in the Guinean samples than in the Portuguese; however, little differentiation was found among the populations, suggesting that local selection on exon 8 sequence variation is absent. The screening for sequence motifs suggests that polymorphism on this region may be involved in HLA-G post-transcriptional regulation and, therefore, in phenotype variation.
authors.affiliation: Department of Anthropology, University of Coimbra, 3000-056 Coimbra, Portugal. alvarez@antrop.uc.pt
authors.forename: M
authors.initials: M
authors.lastname: Alvarez
authors.forename: J
authors.initials: J
authors.lastname: Piedade
authors.forename: S
authors.initials: S
authors.lastname: Balseiro
authors.forename: G
authors.initials: G
authors.lastname: Ribas
authors.forename: F
authors.initials: F
authors.lastname: Regateiro
mesh_terms: D020413:3' Untranslated Regions; D000483:Alleles; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D006169:Guinea-Bissau; D006680:HLA Antigens / Q000235:genetics*; D059951:HLA-G Antigens; D006239:Haplotypes; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008957:Models, Genetic; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011174:Portugal; D012323:RNA Processing, Post-Transcriptional; D017384:Sequence Deletion
chemical_list: D020413:3' Untranslated Regions; D006680:HLA Antigens; D059951:HLA-G Antigens; D015395:Histocompatibility Antigens Class I