Análisis de las inversiones del intrón 1 y 22 y secuenciación del gen F8 para el diagnóstico genético-molecular de hemofilia A en Chile / Introns 1 and 22 inversions and F8 gene sequencing for molecular diagnosis of hemophilia A in Chile
Rev. méd. Chile
;
139(2): 189-196, feb. 2011. ilus, tab
Artículo
en Español
| LILACS
| ID: lil-595286
ABSTRACT
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 andMethods:
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Factor VIII
/
Intrones
/
Hemofilia A
/
Inversión Cromosómica
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2011
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Departamento de Laboratorios Clínicos/CL
/
Pontificia Universidad Católica de Chile/CL
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