Caspase 12 (Csp-12) is a cysteine protease that plays a role in regulation of cytokine maturation. It is present either in a functional full-length variant (Csp-12L) that predisposes to a lower immune response or in an inactive, common version (Csp-12S) that contains a stop codon that results in a truncated form. Genomic DNA from unrelated North Africans, residents of 4th Nile Cataract Region in Sudan, was analyzed. One hundred umbilical blood samples of Polish newborns served as a reference group from the Caucasian population. The analysis of stop-codon polymorphism performed on the 212 human samples from Northern Sudan identified 6.6% individuals with heterozygous genotypes while not one homozygous Csp-12L was found. All examined Polish individuals were homozygous Csp-12S.
Russian Journal of Genetics – Springer Journals
Published: Apr 26, 2012
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