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PMID: 2351933 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis.

The Journal of experimental medicine ·Vol. 171 ·No. 6 ·1990-06-01 ·Pages 2101-14

Zhang WJ, Degli-Esposti MA, Cobain TJ, Cameron PU, Christiansen FT, Dawkins RL

Abstract

We have examined the hypothesis that MHC ancestral haplotypes have a specific content of genes regulating the extent of autoimmune reactions. Gene copy number was quantitated by objective densitometry after PFGE was used to separate heterozygous AHs of different lengths. Initially we analyzed examples of known gene copy number at the C4 and 21 hydroxylase loci and showed that the approach provides predictable results. We then studied heterozygotes containing one characterized and one uncharacterized AH with particular attention to the gene copy number at the C4, Cyp21, and DRB loci. Each AH studied has a characteristic gene copy number at each locus studied. The same may be true of TNF, but other possibilities must be considered. AHs are markers for extensive chromosomal segments including particular numbers of several functional genes. Since AHs mark susceptibility to autoimmune disease, differences in gene copy number may be implicated.

MeSH Terms
Blotting, Southern Cell Line, Transformed DNA/genetics Densitometry Electrophoresis, Agar Gel Haplotypes/genetics Humans Major Histocompatibility Complex/genetics Multigene Family Nucleic Acid Hybridization Pedigree
Chemicals
DNA
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Zhang W J
Department of Clinical Immunology, Royal Perth Hospital, Perth, Western Australia.
Degli-Esposti M A
Cobain T J
Cameron P U
Christiansen F T
Dawkins R L
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Article Info
Journal
The Journal of experimental medicine
Abbr.
J Exp Med
ISSN
0022-1007
Published
1990-06-01
Pages
2101-14
Language
English
Region
United States
NLM ID
2985109R
PMCID
PMC2187943
Subset
IM
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