Method and kit for the identification of chromosomal microdeleções human by fluorescent quantification PCR (MQF - PCR)

摘要

Method and kit for the identification of chromosomal microdeleções human by fluorescent quantification PCR (MQF - PCR).Emboram available techniques for the specific test of microalterações that cause mental retardation and / or autism, they need a specific clinical suspicion.The microdeleções have a wide phenotypic variability complicates the recognition of clinical cases.Comparative genomic hybridization (aCGH) in microarranjos allows analysis with high resolution in diagnosing any change not - balanced.However, the high cost of aCGH and technical complexity hinders its widespread adoption as the method of choice in the investigation of mental retardation.In this sense,This invention describes a fluorescent quantitation method microdeleções (MQF - PCR) by PCR and kit that allows the study of several sindromes already characterized by cytogenetic and microdeleçãoMicroduplicação / or chromosomal, efficiently, simple and low cost.More specifically, the method and kit comprise pairs of pseudogenes - genes with their respective primers.That allow a wider coverage in the identification of the syndromes of microdeleções and microduplicação of human DNA by using one or more multipolex MQF amplifications by PCR.