title: High frequency of the TCRBV20S1 null allele in the Sardinian population.
abstract: Single nucleotide polymorphisms (SNPs) in the T-cell receptor (TCR) gene segments might play a role in shaping the TCR repertoire. Three polymorphisms have been described for the TCRBV20S1 gene segment, one of which is responsible for a nucleotide substitution at position 524, resulting in the introduction of a stop codon. Individuals homozygous for this inactivating polymorphism ("null allele") are unable to express TCRBV20 gene products. Using DNA restriction digestion analysis, we investigated the frequency of this polymorphism in 111 healthy Sardinian subjects. Inhabitants of the Mediterranean island of Sardinia are considered to represent a genetically isolated population. Our analyses revealed an incidence of 19.8% of homozygosity for the null allele, corresponding to an allele frequency of 0.45. Such an incidence, significantly higher than the one detected in 83 non-Sardinian Caucasians (6%), is the most elevated so far reported in the literature. BV20 is a single member subfamily and the null allele produces a gap in the potential TCR repertoire. Therefore, it is possible that an undetermined selective pressure could have played a role in determining the high frequency of this inactivating polymorphism in Sardinians. Alternatively, this finding could be related to a founder effect in this ancient island population.
authors.affiliation: Institute of Haematology, University of Sassari, Sassari, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Bonfigli
authors.forename: Claudio
authors.initials: C
authors.lastname: Fozza
authors.forename: Salvatore
authors.initials: S
authors.lastname: Contini
authors.forename: Raffaella
authors.initials: R
authors.lastname: Buzzetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Cucca
authors.forename: Maurizio
authors.initials: M
authors.lastname: Longinotti
mesh_terms: D018389:Codon, Nonsense; D005787:Gene Frequency; D019674:Genes, T-Cell Receptor beta / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: D018389:Codon, Nonsense