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Master's Dissertation
DOI
10.11606/D.87.2009.tde-21122009-092858
Document
Author
Full name
Carolina Cavalcante da Cruz
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2009
Supervisor
Committee
Massironi, Silvia Maria Gomes (President)
Chudzinski, Sonia Aparecida de Andrade
Vainzof, Mariz
Title in Portuguese
Mapeamento genético e caracterização fenotípica do mutante anêmico induzido por Ethyl-nitroso-urea.
Keywords in Portuguese
Anemia hemolítica
Biotecnologia
Camundongos BALB/c
Fenótipos (características)
Mapeamento genético
Mutação genética induzida
Mutagênese
Abstract in Portuguese
A mutagênese química utilizando o agente mutagênico N-ethyl-N-nitrosourea (ENU) seguida da observação do fenótipo deu origem a um mutante Anêmico. O tipo de herança é autossômica dominante, com morte intra útero dos mutantes homozigotos. O mapeamento genético foi feito utilizando-se marcadores microssatélites, sendo selecionados marcadores polimórficos entre as linhagens BALB/c e C57BL/6 envolvidas no mapeamento. Estabeleceu-se um painel de microssatélites distribuídos por todo o genoma do camundongo, que permitisse a localização do cromossomo portador da mutação. O gene mutante foi localizado no cromossomo 7 entre os marcadores D7Mit301 e D7Mit131 delimitando um intervalo entre 46,5cM e 51cM de 4,5cM. Através das análises fenotípicas do mutante Anêmico e estudo dos genes candidatos neste intervalo, foi selecionado o gene Hbb responsável pela síntese das globinas b-major e b-minor , sendo o gene que mais se identifica com as características do mutante, localizado a 50cM. A deficiência deste gene leva a uma das mais severas anemias humana, a b-Talassemia major.
Title in English
Genetic mapping and phenotypic characterization of an anemic mutant by ethylnitrosourea.
Keywords in English
BALB/c mouse
Biotechnology
Genetic mapping
Hemolytic anemia
Induced gene mutation
Mutagenesis
Phenotype (characteristics)
Abstract in English
Chemical mutagenesis, using the mutagenic agent N-ethyl-N-nitrosourea (ENU), and followed by observation of the phenotype, originated in an Anaemic mutant. The inheritance-type is dominant auto-somic, with intra-uterus death of the homozygotic mutants. Genetic mapping was undertaken by means of micro-satellite markers, polymorphic markers being selected from among the BALB/c and C57BL/6 lineages involved in the mapping itself. A panel was established of the micro-satellites distributed throughout the whole mouse genome, thereby permitting localization of the mutation bearing chromosome. The mutant gene was located in chromosome 7 between markers D7Mit301 and D7Mit131, these delimiting an interval between 46,5cM and 51cM of 4,5cM. Selection of the Hbb gene responsible for synthesis of the b-major and b-minor globins came about through phenotypic analysis of the Anaemic mutant and a study of candidate genes within this interval, the selected gene being that which was most identified with the mutants characteristics and located at 50cM. A deficiency in this gene leads to one of the most severe forms of human anaemia, b-Talhassemia major.
 
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Publishing Date
2010-02-18
 
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