[The human genome--chromosome 8].
From hitherto identified genes located on the 8th human chromosome the author mentions the following: the lipoprotein lipase gene the pathogenic allells of which cause hyperlipoproteinaemia, the ancyrine gene responsible for the development of spherocytosis, the carboanhydrase genes responsible for the development of renal tubular acidosis and the gene of steroid 11-beta-hydroxylase (CYP11B) which is associated with inborn adrenal hyperplasia. The reconstructions and exchanges in which genes of the 8th chromosome participate are frequently found in tumourous processes, in particular in leukaemias type M2 (t8,21). On the 8th chromosome is also the TG locus which in made responsible for the development of non-endemic congenital goitre, and the pharmacogenetically interesting locus of arylamine-N-acetyl transferase.
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Ustav hematologie a krevní transfuze, Praha.
D002898:Chromosomes, Human, Pair 8; D005826:Genetics, Medical; D006801:Humans
Lidský genom--chromozom c. 8.