%0 Journal Article
%T Lyonizaci¨®n desfavorable: A prop¨®sito de una familia con retinosis pigmentaria
%A Rangel Fleites
%A Rub¨¦n
%A Taboada Lugo
%A Noel
%A Lima Le¨®n
%A Carlos
%A Membrides P¨¦rez
%A Gladys
%J Revista Cubana de Oftalmolog£¿-a
%D 2005
%I Editorial Ciencias M¨¦dicas
%X during many years the expression of the genes linked to x chromosome has been a mistery for geneticists. men have only one copy of each gene linked to x chromosome, whereas women have two. the amount of product formed by only one allele in males, or by a couple of alleles in females was equivalent. finally, this was explained with the formulation of the principle of inactivation of x chromosome that has 3 important consequences: dose compensation, mosaicism and variability of expression in heterocygotes. a manifested heterocygote, in which the deleteroous allele is located in the active x chromosome and the normal allele in the inactive x chromosome, in all or most part of the cells, is an example of what is known as unfavorable lyonization. this phenomenon has been described in many disorders linked to x chromosome, including blindness to color, hemophylia a or b, duchenne's muscular distrophy and various ocular disorders linked to x chromosome. a clinical genetical study of a family with diagnosis of typical retinitis pigmentosa of recessive heredity linked to x chromosome, where the phenomenon of unfavorable lyonization is present, was conducted
%K mosaicism
%K x chromosome
%K retinitis pigmentosa [genetics].
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S0864-21762005000100004&lng=en&nrm=iso&tlng=en