Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.
17 chromosomally unbalanced patients, their siblings and parents were tested for HL-A types and for up to 25 other polymorphic systems to determine whether there was gain or loss of an allele concurrent with the gain or loss of chromosome material. 5 patients had trisomy of part or all of a chromosome; 2 had trisomy of a segment and also deletion of chromosome material. All 7 were due to a familial translocation. The remaining patients had small deletions; 5 had ring chromosomes, 4 had rod deletions and 1 had missing chromosome material due to a heritable translocation. All cases were informative at the HL-A loci because of the high degree of polymorphism of the system whereas only some of the other systems were informative. None of the 17 patients showed unusual inheritance of HL-A or any other of the polymorphic systems examined. These results provide evidence excluding the HL-A and other loci from a number of possible locations in the human genome.
D001789:Blood Group Antigens; D001798:Blood Proteins; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D003434:Crossing Over, Genetic; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006680:HLA Antigens; D006649:Histocompatibility Antigens; D006801:Humans; D007125:Immunogenetics; D008297:Male; D008540:Meiosis; D010375:Pedigree; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic
D001789:Blood Group Antigens; D001798:Blood Proteins; D006680:HLA Antigens; D006649:Histocompatibility Antigens