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: pdf
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
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