Por favor, use este identificador para citar o enlazar este ítem:
http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2140| Título : | Carrier detection and prenatal molecular diagnosis in a duchenne muscular dystrophy family without any affected relative available |
| Creador: | Alcántara Ortigoza, Miguel Ángel |
| Nivel de acceso: | Open access |
| Palabras clave : | Distrofina - genética Heterocigoto Distrofia Muscular de Duchenne - diagnóstico Distrofia Muscular de Duchenne - genética Diagnóstico prenatal Procesos de determinación del sexo Dystrophin - genetics Heterozygote Muscular Dystrophy, Duchenne - diagnosis Muscular Dystrophy, Duchenne- genetics Prenatal Diagnosis Sex Determination Processes Distrofia muscular de Duchenne - Prenatal Diagnóstico Molecular Duchenne Muscular Dystrophy - Prenatal Molecular Diagnosis |
| Descripción : | In this paper we report a family where the affected DMD patients were not available for study and a molecular strategy was used for female carriers detection and for prenatal diagnosis. Linkage analysis was performed with two markers within the DMD gene, in all family members screened. DMD markers used (pERT87.8/Taq1 and pERT87.15/Xmn1) seemed not to be informative because the proposita’s mother (II-2) was homozygous for the minor allele at each marker (T2 and X2), however, the proposita and one sister carried only the major allele, which was inherited from the father. These results suggested that a deletion involving both markers could be present, and was inherited from the mother to both daughters. Quantitative multiplex PCR confirmed the deletion in female carriers, involving at least exons 12 to 17. DNA studies of cultured amniotic fluid cells at 14 weeks gestation, by amplification of specific Y-chromosome sequences, followed by multiplex PCR, lead to the diagnosis of a male fetus affected by DMD. © 2001 Éditions scientifiques et médicales Elsevier SAS |
| Colaborador(es) u otros Autores: | García Cavazos R Hernández E González del Angela A Carnevale A Orozco L |
| Fecha de publicación : | 2001 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1016/S0003-3995(01)01084-X |
| Fuente: | Ann Genet 44(3):149–153 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2140 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
Ficheros en este ítem:
No hay ficheros asociados a este ítem.
Los ítems de DSpace están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.