Structural Chromosomal Mutations Associated with Susceptibility to Schizophrenia in Cuban Patients
Keywords:
schizophrenia, chromosome mutations, karyotypeAbstract
Introduction: Schizophrenia is a serious mental disorder that affects approximately 24 million people worldwide, that is, 1 in 300 people. Cytogenetic and molecular studies have revealed a large number of chromosomal mutations in individuals with schizophrenia involving both autosomal and sex chromosomes. The identification of these mutations constitutes a useful tool in the location of genes associated with the origin of this disease.
Objectives: Describe structural chromosomal mutations in individuals with schizophrenia in the Cuban population and describe the type of chromosomal aberrations (balanced or unbalanced) in the patients studied.
Methods: A cross-sectional descriptive study of the case series type was carried out, the sample consisted of 301 individuals diagnosed with schizophrenia. Due to the type of study, the high-resolution lymphocyte culture technique standardized in the Laboratory of the National Center for Medical Genetics of Cuba was used to obtain chromosomes
Results:28 structural mutations were detected (28/301=9.30%), the frequency of balanced structural chromosomal mutations (21/301=6.97%) was higher than the frequency of unbalanced mutations
(7/301=2.32%). Structural chromosomal mutations never previously reported were identified, such as duplications in chromosomes 5, 7 and 10, additions in chromosomes 14 and 21 and translocations between chromosomes 5 and 9.
Conclusions: A better genetic-clinical characterization of schizophrenia in sick individuals was achieved; structural chromosomal mutations described for the first time in the scientific literature, with possible association with schizophrenia in the Cuban population were identified.
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