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Doctoral Thesis
DOI
10.11606/T.5.2004.tde-02052006-093857
Document
Author
Full name
Marta Mitiko Deguti
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2004
Supervisor
Committee
Cançado, Eduardo Luiz Rachid (President)
Guarita, Dulce Reis
Martin, Regina Matsunaga
Mattar, Rejane
Pinho, João Renato Rebello
Title in Portuguese
"Doença de Wilson: aspectos demográficos e fenotípicos relacionados ao genótipo ATP7B e estudo do haplótipo em portadores da mutação L708P"
Keywords in Portuguese
Brasil
Degeneração hepatolenticular/genética
Estudos prospectivos
Estudos retrospectivos
Fenótipo
Genótipo
Haplótipos/genética
Mutação/genética
Polimorfismo de fragmento de restrição
Reação em cadeia por polimerase transcriptase reversa/métodos
Reação em cadeia por polimerase/métodos
Abstract in Portuguese
A doença de Wilson é um distúrbio da excreção biliar de cobre devido a um defeito na proteína ATP7B. Em caráter pioneiro na América do Sul, seqüenciou-se o gene ATP7B em 60 pacientes brasileiros pertencentes a 46 famílias; os resultados foram relacionados com aspectos demográficos e fenotípicos. Detectaram-se 25 mutações, 12 das quais novas. A 3402delC (34,8%) e a L708P (14,1%) ocorreu em 58,3% das famílias de São Paulo e em 44,4% das de Minas Gerais, respectivamente. As substituições novas, pesquisadas por RFLP ou PCR alelo-específica, não ocorreram em 60 indivíduos controle; portanto, não são polimorfismos comuns. O estudo comparativo de haplótipos dos portadores da L708P da coorte atual e de Gran Canaria sugeriu um efeito-fundador comum para ambos os grupos. O fenótipo variou amplamente para genótipos idênticos
Title in English
Wilson disease : demographic and phenotypic aspects related to ATP7B genotype and haplotype analysis in carriers of the L708P mutation
Keywords in English
Brazil
Genotype
Haplotypes/genetics
Hepatolenticular degeneration/genetics
Mutation/genetics
Phenotype
Polymerase chain reaction/methods
Polymorphism restriction fragment length
Prospective studies
Retrospective studies
Reverse transcriptase polymerase chain reaction/methods
Abstract in English
ATP7B protein. As the first study of its kind in South America, the ATP7B gene was sequenced and the results were related to demographic and phenotypic aspects of 60 Brazilian patients, from 46 distinct families. Twenty-five mutations were detected, 12 of which are novel. The 3402delC (34.8%) and the L708P (14.1%) occurred in 58.3% of the families from Sao Paulo and in 44.4% of those from Minas Gerais, respectively. The novel substitutions were shown not to be common polymorphisms by RFLP or allele-specific PCR studies performed in 60 control subjects. Haplotype analysis comparing carriers of the L708P from this cohort study with patients from Gran Canary suggests the same founder-effect for both groups. Phenotype varied widely for identic genotypes.
 
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MartaDeguti.pdf (283.93 Kbytes)
Publishing Date
2006-05-09
 
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