Abstract

ACEVEDO LOPEZ, Ana María; FERREIRA CAPOTE, Raúl; GAYOL MECIAS, Luis A.  and  MENDEZ DEL CASTILLO, Dora. Diagnóstico molecular del Síndrome X Frágil en un grupo control y miembros de 3 familias afectadas. Rev Cubana Pediatr [online]. 1996, vol.68, n.1, pp. 21-25. ISSN 1561-3119.

The fragile X syndrome is the most frequent form of hereditary mental retardation, with an incidence of 1 in 1 500 males, and 1 in 2 500 females; it is caused by mutations that increase the size of a fragment of specific desoxinucleotic acid (DNA) in the Xq 27.3 region of the X chromosome. The outcome in the introduction and application of the StB12.3 molecular probe in a control group and in affected members of three families, is presented. The x-rays of the Southern blot that show the diagnosis patterns possible to obtain, are exposed. This methodology is more direct, effective and reliable for the diagnosis and prevention of this form of mental retardation.

Keywords : FRAGILE X SYNDROME [diagnosis]; GENETICS; BIOCHEMICAL; DNA MUTATIONAL ANALYSIS; BLOTTING, SOUTHERN; CONTROL GROUPS.