Chromosomal variants in individuals with schizophrenia in the Cuban population
Keywords:
Schizophrenia, Cytogenetics, Chromosomal VariantsAbstract
Introduction: Schizophrenia is a mental disorder that affects 1% of the general population and has a heritability of 80%. The study of this disease supports the evidence of genetic causes, which involve the interaction of multiple genes, which represents a complex form of inheritance. The identification of chromosomal regions and even chromosomal variants with a possible association with the disease continue to be important tools for the search of susceptibility genes that code primarily for proteins involved in different brain functions, so that genetic research on schizophrenia have notably contributed to the determination of its pathophysiology. The aim of this study was to identify chromosomal variants with possible association with schizophrenia in individuals of the Cuban population.
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 standardized high-resolution lymphocyte culture technique was used at the Laboratory of the National Center for Medical Genetics of Cuba.
Results: Thirty-two patients with chromosomal variants were identified, one corresponding to the pericentric inversion of chromosome 1 (inv(1)(p12q21), four patients with variants in the acrocentric chromosomes specifically of chromosomes 13 and 14, one individual with a variant in chromosome 16 and 26 individuals with chromosome 9 heteromorphisms.
Conclusions: Identification of polymorphic variants provides a new approach for research aimed at the search for cytogenetic markers that allow delineating genetic susceptibility in families of patients with schizophrenia in the Cuban population.
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