Rate of inversion WBSinv-1 in parent of patients with Williams-Beuren syndrome and parents of normal children in the State of São Paulo

• Grant number: 12/16702-1
• Support Opportunities: Regular Research Grants
• Start date: May 01, 2013
• End date: July 31, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Danilo Moretti-Ferreira
• Grantee: Danilo Moretti-Ferreira
• Host Institution: Instituto de Biociências (IBB). Universidade Estadual Paulista (UNESP). Campus de Botucatu. Botucatu , SP, Brazil

Abstract

The Williams-Beuren syndrome is a developmental birth defect involving the vascular tissues, connective and central nervous system. The syndrome is caused by a loss of material (deletion) on chromosome 7. The size of the deletion is variable and genetic studies in patients affected by the syndrome put in evidence the relationship between the size of the deletion and behavior (symptoms) clinical, indicating that it is a contiguous gene syndrome.The etiology of WBS is a contiguous gene deletion hemizigótica in chromosome region 7q11.23 involving the elastin gene (ELN). The most common size of the deletion is from 1.5 to 1.8 Mb and includes approximately 28 genes (Frohnauer et al. 2010; Mervis and Morris, 2000). The clinical diagnosis of the syndrome is confirmed by the technique of fluorescence in situ hybridization (FISH) which is able to detect deletions less than 5 Mb, considered the gold standard for diagnosis (Lowery et al., 1995, Souza et al., 2007).Up to the present known three methods by which this condition occurs, a) not homologous recombination allele (NAHRs) which causes loss of material, 2) Alu sequences (Small transposons in the human genome of about 300 bp) and 3) inversions polymorphic in the parents that predisposes the main cause of microdeletion, and translocations and duplication.Previous studies made by Osborne et al., 2001; Bayes et al., 2003; Cusco et al., 2008; Frohnauer et al. 2010 and Hobart et al., 2010, resaltam those people with inversion is more likely having a child with SWB, this frequency is estimated at 24.9% for parents with children SWB and 5.8% for the general population. At present, Brazil does not have a study that may explain this rate, therefore this study will be based on finding the frequencies of polymorphic inversions on parents with children SWB in relation to the general population of São Paulo.This study addresses two groups, group sample (100 couples with at least one child (a) holder (a) SWB) and control group (100 couples with at least one son (s) standard (s) (meaning not having the SWB). To verify the SWBinv-1 will be held smear for leukocytes interphasics cells, also creates a database of DNA for future molecular research.In the Cytogenetics Laboratory of Genetic Counseling Service will be treated slides and stained in accordance with the manufacturer's protocol of the probes (Live-Lexel ®) and analyzed on a fluorescence photomicroscope LEICA LEITZ DMRBE. Be reviewed at least 50 cells and cells photomicrographed interphasics the top 10 in each case.The statistical treatment of results of the two groups will be conducted using the Statistical Pack for Social Sciences - IBM SPSS.19. (AU)