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DNA polymorphisms for carrier detection of hemophilia in Thailand.
Southeast Asian J Trop Med Public Health ; 1995 ; 26 Suppl 1(): 201-6
Artigo em Inglês | IMSEAR | ID: sea-31332
ABSTRACT
The assessment of carrier state based on the pedigree and laboratory testing in 55 females from 34 Thai hemophilia families (24 affected by hemophilia A, 10 by hemophilia B) was studied. The laboratory testing included phenotypic analysis (FVIIIC/vWF Ag ratio, FIXC) and two types of DNA polymorphisms, restriction fragment length polymorphisms (RFLP) and variable number tandem repeats (VNTR) in/and close to the factor VIII genes (Bcl I, Xba I RFLP, St 14 VNTR) and factor IX genes (Mse I, Dde I RFLP). Fifteen out of seventeen (88%) obligate hemophilia A carriers and one out of five (20%) obligate hemophilia B carriers were diagnosed by phenotypic analysis. All hemophilia A carriers were informative for at least one polymorphism (Bcl I, Xba I or St 14) while 42% of hemophilia B carriers were informative for Mse I RFLP only. DNA polymorphism analysis has advantage over phenotypic analysis since it generally gives an absolute diagnosis when informative. Most DNA polymorphism analyses are performed by PCR technique which is a simple, inexpensive and quick procedure. However, it is limited by non-informativeness and high incidence of new mutations.
Assuntos
Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Assunto principal: Linhagem / Tailândia / Polimorfismo de Fragmento de Restrição / Feminino / Humanos / Masculino / Fator IX / Fator VIII / Mapeamento por Restrição / Hemofilia B Tipo de estudo: Estudo diagnóstico País/Região como assunto: Ásia Idioma: Inglês Revista: Southeast Asian J Trop Med Public Health Ano de publicação: 1995 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: IMSEAR (Sudeste Asiático) Assunto principal: Linhagem / Tailândia / Polimorfismo de Fragmento de Restrição / Feminino / Humanos / Masculino / Fator IX / Fator VIII / Mapeamento por Restrição / Hemofilia B Tipo de estudo: Estudo diagnóstico País/Região como assunto: Ásia Idioma: Inglês Revista: Southeast Asian J Trop Med Public Health Ano de publicação: 1995 Tipo de documento: Artigo