Subject(s)
Fetal Heart/surgery , Heart Defects, Congenital/surgery , Heart Failure/surgery , Heart Transplantation/methods , Heart Transplantation/standards , Adult , Brazil , Child , Female , Fetus , Heart Defects, Congenital/diagnosis , Heart Failure/congenital , Heart Failure/diagnosis , Humans , Male , Risk Assessment , Risk Factors , Societies, MedicalABSTRACT
BACKGROUND: Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome. Previous studies suggest that a substantial number of patients with congenital heart disease have a 22q11 deletion. The molecular diagnosis of Del22q11.2 is usually made by fluorescence in situ hybridization, an expensive and not widely available technique. We developed an efficient and cost-effective PCR SNP assay designed for the screening of 22q11.2 deletion through consecutive homozygosity. METHODS: Through the screening of dbSNP we have selected SNP markers located in the 22q11.2 microdeleted region. Population heterozygosities were determined in 213 normal individuals. Designed assays consisted of PCR amplification followed by restriction enzyme digestion. Fragments generated were visualized on agarose gel and genotyped. RESULTS: Selected markers were: rs5748411, rs2238778, rs4819523 and rs4680. All selected markers were localized in the 22q11.2 deleted region. Allele and genotype frequencies of all selected markers were under Hardy-Weinberg equilibrium. Selected SNPs were not in linkage disequilibrium. Predicted assay specificity was estimated to be 92.86% in the Brazilian population. CONCLUSIONS: The use of consecutive homozygosity in this SNP-based diagnostic test may be used as a cost-effective tool in reference molecular genetics laboratories.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , Genetic Testing/economics , Genetic Testing/methods , Polymerase Chain Reaction , Adult , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Male , Polymerase Chain Reaction/economics , Polymorphism, Single Nucleotide/geneticsABSTRACT
Os autores examinaram seis pacientes que apresentavam quadro clinico e hemodinamico de tetrade de Fallot associada a processo miocardico. A insuficiencia cardiaca consequente ao aumento da pressao venocapilar, presente em todos os casos, contraindicou a correcao cirurgica. Os exames mais expressivos foram a radiografia do torax, que revelava acentuado aumento do ventriculo esquerdo com estase pulmonar, e os aspectos eletrocardiograficos que mostravam potencial evidente de ventriculo esquerdo e sobrecarga isolada deste ventriculo. Foram estudados os aspectos clinicos e propedeuticos invasivos ou nao, no sentido de conhecer as resultantes da interacao hemodinamica das duas patologias
