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High frequency of the TCRBV20S1 null allele in the Sardinian population

Bonfigli, Silvana and Fozza, Claudio and Contini, Salvatore and Buzzetti, Raffaella and Cucca, Francesco and Longinotti, Maurizio Roberto (2007) High frequency of the TCRBV20S1 null allele in the Sardinian population. Human Immunology, Vol. 68 (5), p. 426-429. ISSN 0198-8859. Article.

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DOI: 10.1016/j.humimm.2007.01.011


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.

Item Type:Article
ID Code:4176
Uncontrolled Keywords:T-cell receptor repertoire, single nucleotide polymorphisms, TCRBV20S1, null allele polymorphism, Sardinia
Subjects:Area 06 - Scienze mediche > MED/03 Genetica medica
Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:001 Università di Sassari > 03 Istituti > Ematologia
001 Università di Sassari > 01 Dipartimenti > Scienze biomediche
Copyright Holders:© American Society for Histocompatibility and Immunogenetics, 2007
Deposited On:14 Jul 2010 13:28

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