Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile

Background: Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. Aim: To implement a molecula...

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Autores principales:	POGGI,HELENA, HONORATO,JOSEFINA, ROMEO,ELIANA, ZÚÑIGA,PAMELA, QUIROGA,TERESA, LAGOS,MARCELA
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2011
Materias:	Hemophilia A Genetic counseling Genetic testing
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200008
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spelling	oai:scielo:S0034-988720110002000082011-08-01Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en ChilePOGGI,HELENAHONORATO,JOSEFINAROMEO,ELIANAZÚÑIGA,PAMELAQUIROGA,TERESALAGOS,MARCELA Hemophilia A Genetic counseling Genetic testing Background: Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. Aim: To implement a molecular diagnostic test to detect mutations in the F8 gene in Chilean patients with Hemophilia A. Material and Methods: To validate the testing methods, we analyzed samples with intron 22 and intron 1 inversion, and with point mutations previously studied, as well as one subject without Hemophilia. We also studied unrelated Chilean patients with Hemophilia A and their female relatives for carrier testing. Intron 22 and intron 1 inversions were studied by long distance polymerase chain reaction (PCR) and point mutations by sequencing the coding and promoter regions of the F8 gene. Results: The results obtained in all samples used for validation were concordant with those obtained previously. In the Chilean patients, the intron 22 inversion and point mutations previously described were observed. In 6 out of 9 patients with mild Hemophilia A we found the same mutation (Arg2159Cys) in exon 23, which has been described as prevalent in mild Hemophilia A. Conclusions: The analysis of intron 22 and intron 1 inversions, as well as of point mutations in the F8 gene will help us to confirm the diagnosis in patients with severe, moderate and mild Hemophilia A, and also it will allow us to perform carrier testing and to provide better genetic counseling.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.139 n.2 20112011-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200008es10.4067/S0034-98872011000200008
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Hemophilia A Genetic counseling Genetic testing
spellingShingle	Hemophilia A Genetic counseling Genetic testing POGGI,HELENA HONORATO,JOSEFINA ROMEO,ELIANA ZÚÑIGA,PAMELA QUIROGA,TERESA LAGOS,MARCELA Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
description	Background: Hemophilia A is an inherited disorder caused by alterations in factor VIII gene (F8) located on the X-chromosome, the intron 22 inversion being the most common mutation. The rest are predominantly point mutations distributed along this large gene of 26 exons. Aim: To implement a molecular diagnostic test to detect mutations in the F8 gene in Chilean patients with Hemophilia A. Material and Methods: To validate the testing methods, we analyzed samples with intron 22 and intron 1 inversion, and with point mutations previously studied, as well as one subject without Hemophilia. We also studied unrelated Chilean patients with Hemophilia A and their female relatives for carrier testing. Intron 22 and intron 1 inversions were studied by long distance polymerase chain reaction (PCR) and point mutations by sequencing the coding and promoter regions of the F8 gene. Results: The results obtained in all samples used for validation were concordant with those obtained previously. In the Chilean patients, the intron 22 inversion and point mutations previously described were observed. In 6 out of 9 patients with mild Hemophilia A we found the same mutation (Arg2159Cys) in exon 23, which has been described as prevalent in mild Hemophilia A. Conclusions: The analysis of intron 22 and intron 1 inversions, as well as of point mutations in the F8 gene will help us to confirm the diagnosis in patients with severe, moderate and mild Hemophilia A, and also it will allow us to perform carrier testing and to provide better genetic counseling.
author	POGGI,HELENA HONORATO,JOSEFINA ROMEO,ELIANA ZÚÑIGA,PAMELA QUIROGA,TERESA LAGOS,MARCELA
author_facet	POGGI,HELENA HONORATO,JOSEFINA ROMEO,ELIANA ZÚÑIGA,PAMELA QUIROGA,TERESA LAGOS,MARCELA
author_sort	POGGI,HELENA
title	Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
title_short	Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
title_full	Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
title_fullStr	Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
title_full_unstemmed	Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile
title_sort	análisis de las inversiones del intrón 1 y 22 y secuenciación del gen f8 para el diagnóstico genético-molecular de hemofilia a en chile
publisher	Sociedad Médica de Santiago
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000200008
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Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile

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