| Revue: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000424513 |
| ISSN: | 1415-4757 |
| Autores: | Yunis, Luz Karime1 Linares, Adriana3 Cabrera, Edgar2 Yunis, Juan J4 |
| Instituciones: | 1Universidad Nacional de Colombia, Grupo de Patología Molecular, Bogotá. Colombia 2Fundación Hospital de la Misericordia, Bogotá. Colombia 3Universidad Nacional de Colombia, Grupo de Onco-Hematología Pediátrica, Bogotá. Colombia 4Universidad Nacional de Colombia, Departamento de Patología, Bogotá. Colombia |
| Año: | 2018 |
| Periodo: | Dic |
| Volumen: | 41 |
| Número: | 4 |
| Paginación: | 750-757 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form ofthe disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severeHA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effectivestrategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1,followed by the analysis of theF8gene coding region by means of high resolution melting (HRM) PCR and Sangersequencing in Inv22 and Inv1 negative patients. A total of 33 male HA patients and 6 women were analyzed. Inversion 22 was detected in 14/33 male patients (42.4%), 3/33 (9.1%) had Inv1, 3/33 (9.1%) had large structural variants,and 11/33 (33.3%) single nucleotide/ small frameshift variants. No genetic variant was found in 2/33 patients (6%).With this systematic approach we detected pathogenic variants in 31 out of 33 male affected individuals (94%) tested for the first time. in a |
| Disciplinas: | Medicina, Química |
| Palabras clave: | Genética, Hematología, Bioquímica, Hemofilia A, Factor VIII, IS-PCR, HRM, Colombia |
| Keyword: | Genetics, Hematology, Biochemistry, Hemophilia A, Factor VIII, IS-PCR, HRM, Colombia |
| Texte intégral: | Texto completo (Ver PDF) |
