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[Diagnosis of Lepore hemoglobinopathy with DNA analysis]
J Lavinha1, V Sampaio, E da Mata
1Laboratório de Genética Humana, Instituto Nacional de Saúde, Serviços de Patologia Clínica e Medicina III, Hospital de Pulido Valente, Lisboa.
Acta Medica Portuguesa
|July 1, 1992
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.