Summary
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.
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Supported by Maternal and Child Health Services 920 and a grant from the Medical Research Foundation of Oregon.
Supported by NIH grants AM 13173 and HD-05082 and a Basil O'Connor Starter Research Grant from the National Foundation March of Dimes.
Supported by Crippled Children's Division of Oregon Summer Student Funds.
Supported by a grant from the National Foundation March of Dimes.
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Magenis, R.E., Overton, K., Wyandt, H. et al. Exclusion gene mapping utilizing patients with chromosome imbalance: The HL-A system as a prototype. Hum Genet 27, 91–109 (1975). https://doi.org/10.1007/BF00273324
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DOI: https://doi.org/10.1007/BF00273324