title: [Detection of carriers and diagnosis of Duchenne's muscular dystrophy by DNA analysis].
abstract: Carrier detection and prenatal diagnosis of Duchenne muscular dystrophy can be, now, more accurately performed with the DNA recombinant techniques. The segregation pattern of DMD gen can be studied using the genetic variants detected at the DNA level (RFLPs) as markers. Cloned fragments within or very close to the gene (intragenic or extragenic probes) are used to reveal the RFLPs. Three families at risk for DMD were studied. Hybridization with extra or intragenic probes was performed and the analyses of several markers allows us to identify the X chromosome carrying the DMD gene. Carrier diagnosis was possible in all three families and a prenatal diagnosis in a carrier mother showed a risk probability of male affected fetus of 93-95%.
authors: Unidad de Biología Molecular para el estudio de las enfermedades hereditarias y diagnóstico prenatal, Hospital de la Santa Cruz y San Pablo, Barcelona.
authors: V
authors: V
authors: Nunes Martínez
authors: P
authors: P
authors: Gallano Petit
authors: E
authors: E
authors: del Río Conde
authors: T
authors: T
authors: Casals Senent
authors: M
authors: M
authors: Baiget Bastus
mesh_terms: D000483:Alleles; D001345:Autoradiography; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000635:transmission; D009154:Mutation; D010375:Pedigree; D014960:X Chromosome
chemical_list: D004247:DNA
vernacular_title: Detección de portadoras y diagnóstico de la distrofia muscular de Duchenne mediante análisis del ADN.