[The human genome--chromosome 7].
The seventh chromosome achieved maximum popularity due to locus CFTR the pathological alleles of which cause one of the frequent metabolic hereditary disorders--cystic fibrosis. It is also the site which causes the development of some types of retinitis pigmentosa (RP9, RP10), osteogenesis imperfecta and dominant forms of myotonia congenita. On the long arms there is a complicated multi-segmental gene system of receptors of T-lymphocytes, TCRB, important in cell immunity and it is assumed that it is also the locus of taste perception of phenylthiocarbamide (PTC) is located there.
Brdicka
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Ustav hematologie a krevní transfuze, Praha.
D002897:Chromosomes, Human, Pair 7; D005826:Genetics, Medical; D006801:Humans
Lidský genom--chromozom c. 7.