Application of long distance-PCR to hemophilia A carrier detection and prenatal diagnosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 505-507, 2004.
Article
en Zh
| WPRIM
| ID: wpr-328838
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia A (HA).</p><p><b>METHODS</b>Twenty-five carriers of severe HA were directly detected by long-distance PCR (LD-PCR) in search of the factor FVIII (FVIII) gene inversion. Prenatal diagnosis was carried out using pregnant woman's venous blood sample, husband's venous blood sample and fetal navel venous sample at 20-24 weeks of gestation. The plasma coagulation factor VIII activity (FVIII:C) was detected by one-stage method. The concentration of von Willbrand factor (Vwf) was assayed by ELISA. Prenatal diagnosis was finally made by LD-PCR. The results of LD-PCR were proved by DNA sequencing.</p><p><b>RESULTS</b>Eight out of 25 cases were diagnosed as having FVIII geneinversion. Four of these 8 carriers underwent the LD-PCR for prenatal diagnosis, and 2 of them had to terminate pregnancy because their fetuses were diagnosed as having HA. The other two carriers were finally diagnosed to have normal fetuses by combined use of LD-PCR with plasma FVIII:C, vWF in pregnant woman's venous blood, husband's venous blood and fetal navel venous blood, and the one-year follow-up study demonstrated that the babies were normal and living well.</p><p><b>CONCLUSION</b>LD-PCR technique was adopted in this study to detect the factor VIII gene inversion; it could accurately and rapidly diagnose the severe cases of HA and could be used for the HA carriers in need of pregnant diagnosis.</p>
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Índice:
WPRIM
Asunto principal:
Diagnóstico Prenatal
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Factor VIII
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Reacción en Cadena de la Polimerasa
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Reproducibilidad de los Resultados
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Diagnóstico
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Genética
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Hemofilia A
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Métodos
Tipo de estudio:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Límite:
Female
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Humans
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2004
Tipo del documento:
Article