Investigation of susceptibility factors for deletion 22q11.2

• Grant number: 18/02025-4
• Support Opportunities: Scholarships in Brazil - Master
• Start date: July 01, 2018
• End date: March 31, 2020
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Agreement: Coordination of Improvement of Higher Education Personnel (CAPES)
• Principal Investigator: Társis Antônio Paiva Vieira
• Grantee: Pedro Cristovão Carvalho
• Host 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. 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.

Scientific publications

(The scientific publications listed on this page originate from the Web of Science or SciELO databases. Their authors have cited FAPESP grant or fellowship project numbers awarded to Principal Investigators or Fellowship Recipients, whether or not they are among the authors. This information is collected automatically and retrieved directly from those bibliometric databases.)

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.