Abstract

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.

Authors

Kempińska-Podhorodecka AD, Knap OM, Kobus K, Ciechanowicz A

Institution

Medical Biology Laboratory of Pomeranian Medical University, 70-111 Szczecin, Poland. agnieszkakempinska@poczta.onet.pl

Source

Genetika 48:4 2012 Apr pg 566-8

MeSH

Adult
Africa, Northern
Caspase 12
Codon, Terminator
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Male
Poland
Polymorphism, Genetic
Protein Isoforms
Sepsis

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22730778