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Universidade Estadual de Campinas

1. Gonçalves, Claudia Estela, 1970-. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.

Degree: 2014, Universidade Estadual de Campinas

Abstract: The Fanconi Anemia (FA) is a genetic disorder characterized by multiple congenital and hematological abnormalities and predisposition to a variety of tumors. The worldwide incidence of AF is approximately three per million and the frequency of heterozygotes is estimated at one in 300 in Europe and the United States. It is a disease caused by mutations in genes involved in the repair system. So far have been described 16 genes that may be mutated. They are: FANCA , FANCB , FANCC , FNCD1 , FANCD2 , FANCE , FANCF , FANCG , FANCI , FANCJ , FANCL , FANCM , FANCN , FANCO , FANCP And PANCQ . The most common groups are the FANCA and FANCC. However due to this genetic heterogeneity, molecular diagnosis of this change is complex. In order to test a diagnostic strategy, the present study aimed to identify the most frequent mutations in the FANC gene by PCR and restriction enzyme digestion and investigate mutations in the FANCA gene, using the polymerase chain reaction followed by enzymatic digestion of the mutation Brazilian and subsequent sequencing of the 43 exons in 60 patients with Fanconi Anemia positive DEB. 19 patients (27.94%) were detected as group C and 16 patients as group A (23.53%). The ?3788 - 3790 mutation in the FANCA gene had an allelic frequency of 15.4%. Three intronic mutations, one synonymous mutation and one mutation changed direction in FANCA gene were found. No correlation with hematologic, renal, low weight manifestations of congenital malformations members, butches and skin pigmentation, age and sex were found Advisors/Committee Members: UNIVERSIDADE ESTADUAL DE CAMPINAS (CRUESP), Bertuzzo, Carmen Sílvia, 1963- (advisor), Universidade Estadual de Campinas. Faculdade de Ciências Médicas (institution), Programa de Pós-Graduação em Clínica Médica (nameofprogram), Soma, Mithitaka (committee member), Secolin, Rodrigo (committee member), Ribeiro, Antonio Fernando (committee member), Oliveira, Camila Andrea de (committee member).

Subjects/Keywords: Anemia de Fanconi; Neoplasias; Genótipo; Síndromes mielodisplásicas; Mutação; Instabilidade cromossomica; Fanconi anemia; Neoplasms; Genotype; Myelodysplastic syndromes; Mutation; Chromosomal instability

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APA (6th Edition):

Gonçalves, Claudia Estela, 1. (2014). Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. (Thesis). Universidade Estadual de Campinas. Retrieved from http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Gonçalves, Claudia Estela, 1970-. “Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.” 2014. Thesis, Universidade Estadual de Campinas. Accessed October 20, 2020. http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Gonçalves, Claudia Estela, 1970-. “Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia.” 2014. Web. 20 Oct 2020.

Vancouver:

Gonçalves, Claudia Estela 1. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. [Internet] [Thesis]. Universidade Estadual de Campinas; 2014. [cited 2020 Oct 20]. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Gonçalves, Claudia Estela 1. Estudo molecular do gene FANCA em pacientes com quadro clínico de Anemia de Fanconi: Molecular study of the gene FANCA in patients with compatible clinical of Fanconi Anemia. [Thesis]. Universidade Estadual de Campinas; 2014. Available from: http://repositorio.unicamp.br/jspui/handle/REPOSIP/308602

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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