title: Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.
abstract: We performed HLA genotyping by using restriction-enzyme fragments hybridized with specific HLA probes instead of traditional immunologic methods in two patients whose lymphocytes expressed so few HLA antigens on the cell surface that serologic methods failed. Segregation of restriction-fragment-length polymorphism permitted identification of the genotypes. In addition, known correlations between serologically determined antigens and restriction-fragment-length polymorphism were confirmed. We applied this approach in making therapeutic decisions regarding bone marrow transplantation.
authors.forename: A
authors.initials: A
authors.lastname: Marcadet
authors.forename: D
authors.initials: D
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Dausset
authors.forename: A
authors.initials: A
authors.lastname: Fischer
authors.forename: A
authors.initials: A
authors.lastname: Durandy
authors.forename: C
authors.initials: C
authors.lastname: Griscelli
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D004247:DNA / Q000032:analysis*; D004262:DNA Restriction Enzymes / Q000494:pharmacology; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics*; D006650:Histocompatibility Testing / Q000379:methods*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D009693:Nucleic Acid Hybridization
chemical_list: D006680:HLA Antigens; D004247:DNA; D004262:DNA Restriction Enzymes