The author presents a selective review on the gene contents of the second human chromosome, in particular with regard to pathogenesis. Among the best known ones the author mentions genes the alleles of which cause anomalies of apolipoprotein B, disorders of blood clotting caused by defects of C protein and Waardenburg's syndrome associated with disorders of the function of one of the regulating genes of the PAX family. Variable and constant gene segments of the immunoglobulin chain kappa, incl. pseudogenes, can be considered dominating. A new sphere of research interest developed in conjunction with the finding of a gene conditioning familial non-polypous carcinoma of the large intestine.

Ustav hematologie a krevní transfuze Praha