Frequencies of functional caspase 12 genotypes in the North Africa population.
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.
Medical Biology Laboratory of Pomeranian Medical University, 70-111 Szczecin, Poland. firstname.lastname@example.org
SourceGenetika 48:4 2012 Apr pg 566-8
Genetic Predisposition to Disease
Pub Type(s)Journal Article
Research Support, Non-U.S. Gov't