22q11.2 deletion frequency in spermatozoa of individuals from general population

• Grant number: 18/02025-4
• Support type: Scholarships in Brazil - Master
• Effective date (Start): July 01, 2018
• Effective date (End): March 31, 2020
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Cooperation agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal researcher: Társis Antônio Paiva Vieira
• Grantee: Pedro Cristovão Carvalho
• Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is the most common in humans, with an estimated frequency of 1/4,000 live births. Among the main clinical features, both physical and behavioral characteristics are observed, with a wide clinical heterogeneity. The 22q11.2 region is characterized by the presence of low copy repeats (LCRs) blocks, which can serve as substrate for a mispairing between sister chromatids or homologous chromosomes, resulting in recurrent deletions. Spermatozoa analyses, from groups of control individuals and fathers of children with the 22q11.2DS showed a significant interindividual difference in the frequency of deletions and duplications, suggesting the contribution of genetic and (or) environmental susceptibility factors. Another recent study showed that inversions between the 22q11.2 LCRs can be a predisposition factor for deletions. The aims of the present study are to investigate the frequency of 22q11.2 deletion in spermatozoa from individuals from general population, investigate the frequency of inversions between the LCRs on interphase nuclei from peripheral blood, and correlate with the frequency of deletion in sperm. The casuistry will be 20 to 30 healthy men from the general population, older than 18 years old, normozoospermic and with a normal karyotype. The investigations of the 22q11.2 deletion frequency in spermatozoa and the inversions on interphase nuclei cultured from peripheral blood samples will be performed with the Fluorescent in situ Hybridization (FISH) technique. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

CARVALHO, PEDRO CRISTOVAO; SGARDIOLI, ILARIA CRISTINA; BONADIA, LUCIANA CARDOSO; SPINELI-SILVA, SAMIRA; VIGUETTI-CAMPOS, NILMA LUCIA; GIL-DA-SILVA-LOPES, VERA LUCIA; VIEIRA, TARSIS PAIVA. Further evidence for lack of association of PRDM9 polymorphisms and 22q11.2 deletion syndrome. META GENE, v. 29, SEP 2021. (18/02025-4)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

CARVALHO, Pedro Cristovão. Investigation of susceptibility factors for deletion 22q11.2. 2020. Master's Dissertation - Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas Campinas, SP.