Please use this identifier to cite or link to this item:
http://acervodigital.unesp.br/handle/11449/74367
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Mota, Adolfo J. | - |
dc.contributor.author | Brüggemann, Simone | - |
dc.contributor.author | Costa, Fabrício F. | - |
dc.date.accessioned | 2014-05-27T11:28:09Z | - |
dc.date.accessioned | 2016-10-25T18:42:39Z | - |
dc.date.available | 2014-05-27T11:28:09Z | - |
dc.date.available | 2016-10-25T18:42:39Z | - |
dc.date.issued | 2013-01-10 | - |
dc.identifier | http://dx.doi.org/10.1016/j.gene.2012.10.013 | - |
dc.identifier.citation | Gene, v. 512, n. 2, p. 486-491, 2013. | - |
dc.identifier.issn | 0378-1119 | - |
dc.identifier.issn | 1879-0038 | - |
dc.identifier.uri | http://hdl.handle.net/11449/74367 | - |
dc.identifier.uri | http://acervodigital.unesp.br/handle/11449/74367 | - |
dc.description.abstract | Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25. years, and lack of auto-antibodies. It accounts for 2-5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil. © 2012 Elsevier B.V. | en |
dc.format.extent | 486-491 | - |
dc.language.iso | eng | - |
dc.source | Scopus | - |
dc.subject | Brazilian family | - |
dc.subject | Glucokinase (GCK) | - |
dc.subject | MODY2 | - |
dc.subject | New mutations | - |
dc.subject | glucokinase | - |
dc.subject | adult | - |
dc.subject | amplicon | - |
dc.subject | clinical article | - |
dc.subject | clinical feature | - |
dc.subject | controlled study | - |
dc.subject | correlation analysis | - |
dc.subject | exon | - |
dc.subject | gene identification | - |
dc.subject | gene location | - |
dc.subject | human | - |
dc.subject | molecular genetics | - |
dc.subject | mutational analysis | - |
dc.subject | non insulin dependent diabetes mellitus | - |
dc.subject | pedigree analysis | - |
dc.subject | polymerase chain reaction | - |
dc.subject | priority journal | - |
dc.subject | restriction fragment length polymorphism | - |
dc.subject | sequence analysis | - |
dc.subject | stop codon | - |
dc.subject | Adult | - |
dc.subject | Brazil | - |
dc.subject | Child | - |
dc.subject | Codon, Terminator | - |
dc.subject | Diabetes Mellitus, Type 2 | - |
dc.subject | Emigration and Immigration | - |
dc.subject | Exons | - |
dc.subject | Female | - |
dc.subject | Glucokinase | - |
dc.subject | Humans | - |
dc.subject | Italy | - |
dc.subject | Male | - |
dc.subject | Models, Genetic | - |
dc.subject | Mutation | - |
dc.subject | Polymerase Chain Reaction | - |
dc.subject | Polymorphism, Restriction Fragment Length | - |
dc.title | MODY 2: Mutation identification and molecular ancestry in a Brazilian family | en |
dc.type | outro | - |
dc.contributor.institution | Universidade Estadual Paulista (UNESP) | - |
dc.contributor.institution | Prefeitura Municipal de Sao Jose dos Campos (PMSJC) | - |
dc.contributor.institution | Northwestern University (NU) | - |
dc.contributor.institution | Datagenno Interactive Research Ltda | - |
dc.description.affiliation | Departamento de Biociências e Diagnóstico Oral Faculdade de Odontologia de São José dos Campos Universidade Estadual Paulista (UNESP), São José dos Campos, SP | - |
dc.description.affiliation | Prefeitura Municipal de Sao Jose dos Campos (PMSJC), Sao Jose dos Campos, SP | - |
dc.description.affiliation | Cancer Biology and Epigenomics Program Children's Hospital of Chicago Research Center and Department of Pediatrics Northwestern University's Feinberg School of Medicine, Chicago, IL 60614 | - |
dc.description.affiliation | Datagenno Interactive Research Ltda, Rua Gastao Machado 66, Edifício CME, Salas 503/504, Campos dos Goytacazes, Rio de Janeiro, RJ 28035-120 | - |
dc.description.affiliationUnesp | Departamento de Biociências e Diagnóstico Oral Faculdade de Odontologia de São José dos Campos Universidade Estadual Paulista (UNESP), São José dos Campos, SP | - |
dc.identifier.doi | 10.1016/j.gene.2012.10.013 | - |
dc.identifier.wos | WOS:000313768900049 | - |
dc.rights.accessRights | Acesso restrito | - |
dc.relation.ispartof | Gene | - |
dc.identifier.scopus | 2-s2.0-84870376707 | - |
Appears in Collections: | Artigos, TCCs, Teses e Dissertações da Unesp |
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.