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Molecular Genetic Diagnosis of Hemophilia A by Linkage Analysis of XbaI/intron 22 DNA Polymorphism Using PCR / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology ; : 771-775, 2003.
Artigo em Coreano | WPRIM | ID: wpr-12311
ABSTRACT

OBJECTIVE:

To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor VIII gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean population.

DESIGN:

A laboratory analysis. MATERIALS AND

METHODS:

A XbaI/intron 22 polymorphism of the factor VIII gene was analyzed in 56 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction.

RESULTS:

Analysis of XbaI/intron 22 polymorphisms of the factor VIII gene were feasible by PCR method. The expected heterozygosity rates of XbaI/intron 22 polymorphism of the factor VIII gene were 44.8%. Analysis of XbaI/intron 22 polymorphism revealed heterozygous patterns in 22 (39.3%) of 56 mothers studied. Using linkage analysis with XbaI/intron 22 polymorphism, we have attempted one case of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A.

CONCLUSION:

These results suggest that PCR analysis of the XbaI/intron 22 polymorphism within the factor VIII gene is very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / DNA / Fator VIII / Reação em Cadeia da Polimerase / Diagnóstico / Hemofilia A / Biologia Molecular / Mães Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Humanos Idioma: Coreano Revista: Korean Journal of Obstetrics and Gynecology Ano de publicação: 2003 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Diagnóstico Pré-Natal / DNA / Fator VIII / Reação em Cadeia da Polimerase / Diagnóstico / Hemofilia A / Biologia Molecular / Mães Tipo de estudo: Estudo diagnóstico / Estudo prognóstico Limite: Humanos Idioma: Coreano Revista: Korean Journal of Obstetrics and Gynecology Ano de publicação: 2003 Tipo de documento: Artigo