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. agnieszkakempinska@poczta.onet.pl
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Ciechanowicz
D000328:Adult; D000352:Africa, Northern; D053454:Caspase 12 / Q000097:blood / Q000235:genetics*; D018388:Codon, Terminator; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011044:Poland; D011110:Polymorphism, Genetic; D020033:Protein Isoforms / Q000235:genetics*; D018805:Sepsis / Q000235:genetics
D018388:Codon, Terminator; D020033:Protein Isoforms; C506444:CASP12 protein, human; D053454:Caspase 12