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Deep sequencing for identification and characterization of deafness genes

Grant number: 13/05823-5
Support type:Scholarships in Brazil - Doctorate
Effective date (Start): July 01, 2013
Effective date (End): August 14, 2017
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Edi Lúcia Sartorato
Grantee:Fábio Tadeu Arrojo Martins
Home Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Associated scholarship(s):13/22538-2 - Deep sequencing to identify and characterize deafness genes, BE.EP.DR


Hearing loss is the most common sensory impairment in humans, affecting approximately 10% of the entire world population. The restriction of communication by oral expression results in changes in cognitive and psychological development of the affected individual. In developed countries, one in every 500 individuals has profound/severe bilateral sensorineural hearing loss. In cases of individuals with up to 5 years, the percentage is higher, reaching 0.27% of 1000 individuals, that number becomes even greater in cases where young people, reaching 0.35%. Among the causes of hearing loss, more than 60% of cases of congenital hearing loss is genetic. So far already aware of 150 loci and 103 genes involved in hearing loss, and most of them have at least 20 changes (point mutations, deletions, insertions, etc.) that may to cause deafness. One gene that has a higher number of changes is the GJB2 gene, encoding the connexin 26, a protein related to exchange intercellular in the auditory system, maintaining homeostasis of the potassium ion, essential for hearing. Only this gene has over 302 changes confirmed so far, being this the main gene related to cases of hearing loss of genetic origin. It is known that 2/3 of the deaf population still has no diagnosis for disability. This is partly because of the large number of genes related to hearing loss, it is estimated that it can reach 300 genes (1% of human genes) and by conventional molecular techniques that do not have great power sweep or affordable to use in the field of diagnostics. With the emergence of technologies 'high-throughput' (high performance), new molecular platforms have emerged, allowing the simultaneous detection of multiple genes and/or changes. One of the most powerful platforms available today are of Next Generation Sequencing - NGS. With these, you can scan in over 30 Gb of DNA in just one day. Among the variations of existing techniques, there is the Whole exome Sequencing - WES. This variation allows complete sequencing of several exons of an individual, thereby studying alterations in the coding regions of genes. The advantage of this technique is the generation of a few residues, such as introns. Thus, using the WES will be held scan the exons of 284 genes that are related to hearing loss and/or are candidate genes to identify and characterize novel genes that cause deafness in our population. In silico assays and animal model will be performed to validate the changes identified during the sequencing, so as to separate and study frequency in the population. (AU)

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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)
ARROJO MARTINS, FABIO TADEU; RAMOS, BERENICE DIAS; SARTORATO, EDI LACIA. A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene. GENETICS AND MOLECULAR BIOLOGY, v. 41, n. 4, p. 794-798, . (13/05823-5)
Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
MARTINS, Fábio Tadeu Arrojo. Massive parallel sequencing for identification and characterization of genes related to hearing loss. 2017. Doctoral Thesis - Universidade Estadual de Campinas (UNICAMP). Instituto de Biologia Campinas, SP.

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