%0 Journal Article
%T An芍lisis de microdeleciones en 22q11 en pacientes colombianos con cardiopat赤a cong谷nita no sindr車mica Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease
%A Marleny Salazar
%A Guiovanny Villalba
%A Heidi Mateus
%A Victoria Villegas
%J Investigaci車n Cl赤nica
%D 2011
%I Scientific Electronic Library Online
%X Los defectos cardiacos conforman las malformaciones cong谷nitas m芍s frecuentes, con una incidencia que se ha estimado entre 4 y 12 por 1000 en reci谷n nacidos vivos. Estos tienen una etiolog赤a multifactorial en la que convergen la predisposici車n gen谷tica y los factores ambientales. A partir de 1990 se ha relacionado este tipo de patolog赤as con microdelecci車n 22q11. Se determin車 la frecuencia de la microdeleci車n 22q11 en pacientes con cardiopat赤a cong谷nita no sindr車mica. Se analizaron 61 pacientes con cardiopat赤a cong谷nita, a partir de ADN de sangre perif谷rica y posterior amplificaci車n, mediante PCR multiplex del gen TUPLE1 y del STR D10S2198, visualizaci車n electroforesis en geles de agarosa y an芍lisis densitom谷trico para determinar dosis g谷nica. Se encontraron 3 pacientes con microdeleci車n 22q11, para una frecuencia de 4,9%. Esta microdeleci車n se asoci車 en dos de los casos a Tetralog赤a de Fallot y en el otro a Defecto Septal Atrial (DSA). En conclusi車n, la frecuencia de microdeleci車n 22q11 en la poblaci車n analizada es de 4,9%. Dentro de los casos de Tetralog赤a de Fallot, la microdeleci車n estaba presente en el 7,4% y en los DSA corresponde al 11,1%. Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.
%K cardiopat赤as cong谷nitas
%K microdeleci車n 22q11
%K PCR multiplex
%K densitometr赤a
%K TUPLE 1
%K Tetralog赤a de Fallot
%K defecto septal atrial
%K congenital heart diseases
%K microdeletion 22q11
%K multiplex PCR
%K densitometry
%K TUPLE 1
%K Tetralogy of Fallot
%K atrial septal defects
%U http://wwww.scielo.org.ve/scielo.php?script=sci_arttext&pid=S0535-51332011000400005