DNA polymorphisms for carrier detection of hemophilia in Thailand.
Southeast Asian J Trop Med Public Health
; 26 Suppl 1: 201-6, 1995.
Article
em En
| MEDLINE
| ID: mdl-8629107
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polimorfismo de Fragmento de Restrição
/
Fator IX
/
Fator VIII
/
Hemofilia B
/
Hemofilia A
/
Triagem de Portadores Genéticos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Tailândia
País de publicação:
TAILANDIA
/
TAILÂNDIA
/
TH
/
THAILAND