Application study on inversion diagnosis of F8 gene in hemophilia A / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 405-408, 2007.
Article
em Zh
| WPRIM
| ID: wpr-247306
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish an effective method of genetic diagnosis on hemophilia A (HA) by detecting the inversion mutation in intron 22 of F8 gene.</p><p><b>METHODS</b>Intron 22 inversion mutation in F8 gene was detected by using long distance-polymerase chain reaction (LD-PCR) and inversion-PCR (I-PCR) in 31 HA patients. The mothers of HA patients with intron 22 inversion mutation were selected to carrier diagnosis and amniotic fluid of the pregnant women with inversion mutation was collected at intermediate stage of gestation, and used to prenatal genetic diagnosis.</p><p><b>RESULTS</b>Seven patients showed F8 gene inversion mutation in thirty-one patients. Three in four mothers of HA patients with intron 22 inversion mutation were diagnosed as carriers. The prenatal diagnosis result indicated that the fetus conceived in the HA-carrier woman was normal individual.</p><p><b>CONCLUSION</b>The detection of intron 22 inversion mutation by LD-PCR and I-PCR is time-saving, and can be used in prenatal diagnosis on HA.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Diagnóstico Pré-Natal
/
Fator VIII
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Íntrons
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Reação em Cadeia da Polimerase
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Reprodutibilidade dos Testes
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Sensibilidade e Especificidade
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Diagnóstico
/
Genética
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Hemofilia A
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Métodos
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2007
Tipo de documento:
Article