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HLA‐G 3′‐UTR SNP and 14‐bp deletion polymorphisms in Portuguese and Guinea‐Bissau populations

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.