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PMID: 1150239 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

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

Humangenetik ·Vol. 27 ·No. 2 ·1975-00-00 ·Pages 91-109

Magenis RE, Overton K, Wyandt H, Bergstrom T, Hecht F, Lovrien E

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.

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
Chemicals
Blood Group Antigens Blood Proteins HLA Antigens Histocompatibility Antigens
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Magenis R E
Overton K
Wyandt H
Bergstrom T
Hecht F
Lovrien E
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35 references, click to expand
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Article Info
Journal
Humangenetik
Abbr.
Humangenetik
ISSN
0018-7348
DOI
10.1007/BF00273324
Published
1975-00-00
Pages
91-109
Language
English
Region
Germany
NLM ID
7607154
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00273324
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