Investigation of susceptibility factors for deletion 22q11.2

Author(s)

Pedro Cristovão Carvalho

• Document type: Master's Dissertation
• Press: Campinas, SP.
• Institution: Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas
• Defense date: 2020-10-30

Examining board members

Tarsis Antonio Paiva Vieira; Maria Isabel Melaragno; Andrea Trevas Maciel Guerra

• Advisor: Tarsis Antonio Paiva Vieira

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. Recent studies show that the LCR regions can have their activity regulated by specific proteins, such as the zinc finger PRDM9. The aim of the present study is to investigate the genotype of PRDM9 in parents of affected individuals by 22q11.2DS through Sanger bidirectional sequencing. The casuistry includes 20 to 30 parents of 22q11.2DS affected individuals (AU)

• FAPESP's process: 18/02025-4 - 22q11.2 deletion frequency in spermatozoa of individuals from general population
• Grantee: Pedro Cristovão Carvalho
• Support Opportunities: Scholarships in Brazil - Master