HLA-G 3'-UTR SNP and 14-bp deletion polymorphisms in Portuguese and Guinea-Bissau populations

Int J Immunogenet. 2009 Dec;36(6):361-6. doi: 10.1111/j.1744-313X.2009.00875.x. Epub 2009 Oct 11.

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.

MeSH terms

  • 3' Untranslated Regions*
  • Alleles
  • Exons
  • Gene Frequency
  • Genetic Variation
  • Guinea-Bissau
  • HLA Antigens / genetics*
  • HLA-G Antigens
  • Haplotypes
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Models, Genetic
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Portugal
  • RNA Processing, Post-Transcriptional
  • Sequence Deletion*

Substances

  • 3' Untranslated Regions
  • HLA Antigens
  • HLA-G Antigens
  • Histocompatibility Antigens Class I