[The human genome--chromosome 11].
The eleventh human chromosome is one of the most intensely studied and as regards the number of known genes it holds the third place after chromosomes 1 and X. The best known ones located on it are e.g. loci of the beta-globulin family which are associated with the best known and most widely distributed molecular disease-sickle-cell anaemia and beta-thalassaemia. From knowledge of the causes of these diseases at the genome level so-called DNA diagnostics are derived which can be applied also to the prenatal period. On chromosome 11 are the loci of two complementary groups (C, D) which are extremely sensitive to ionizing radiation--ataxia teleangiectasia, the proinsulin locus the mutations of which, however, are not the cause of common types of diabetes. Development of the urogenital tract as indicated by some of its disorders (WAGR, Denys-Drash syndrome) is controlled by WT genes.
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Ustav hematologie a krevní transfuze, Praha.
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005826:Genetics, Medical; D006801:Humans
Lidský genom--chromozom c. 11.