Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype

Humangenetik. 1975;27(2):91-109. doi: 10.1007/BF00273324.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Blood Group Antigens
  • Blood Proteins
  • Chromosome Aberrations*
  • Chromosome Mapping*
  • Crossing Over, Genetic
  • Erythrocytes / enzymology
  • Female
  • HLA Antigens*
  • Histocompatibility Antigens*
  • Humans
  • Immunogenetics
  • Male
  • Meiosis
  • Pedigree
  • Polymorphism, Genetic
  • Translocation, Genetic*

Substances

  • Blood Group Antigens
  • Blood Proteins
  • HLA Antigens
  • Histocompatibility Antigens