Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 80-82, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-329392
ABSTRACT
<p><b>OBJECTIVE</b>To improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.</p><p><b>METHODS</b>Linkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor VIII gene among HA families for indirect diagnosis.</p><p><b>RESULTS</b>The diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored.</p><p><b>CONCLUSION</b>The rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Polimorfismo Genético
/
Diagnóstico Pré-Natal
/
Fator VIII
/
Saúde da Família
/
Reprodutibilidade dos Testes
/
Sensibilidade e Especificidade
/
Repetições Minissatélites
/
Repetições de Dinucleotídeos
/
Cromossomos Humanos X
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2004
Tipo de documento:
Artigo
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