title: [Diagnosis of Lepore hemoglobinopathy with DNA analysis].
abstract: We illustrate the application of recombinant DNA methods (namely Southern blotting) for the genotype diagnosis of haemoglobin Lepore Boston: the use of the restriction endonucleases PstI and XbaI along with a beta globin gene specific probe make it possible to detect a deletion of approximately 7kb which typically characterizes the delta beta Boston gene. The impact of using such methods in the prenatal diagnosis of major haemoglobinopathies is discussed.
authors.affiliation: Laboratório de Genética Humana, Instituto Nacional de Saúde, Serviços de Patologia Clínica e Medicina III, Hospital de Pulido Valente, Lisboa.
authors.forename: J
authors.initials: J
authors.lastname: Lavinha
authors.forename: V
authors.initials: V
authors.lastname: Sampaio
authors.forename: E
authors.initials: E
authors.lastname: da Mata
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis*; D005260:Female; D006453:Hemoglobinopathies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping
chemical_list: D004247:DNA
vernacular_title: Diagnóstico da hemoglobinopatia de Lepore por análise do DNA.