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Haplotyping the human T-cell receptor, β-chain gene complex by use of restriction fragment length polymorphisms

Charmley, Patrick and Chao, Alan and Concannon, Patrick and Hood, Leroy E. and Gatti, Richard A. (1990) Haplotyping the human T-cell receptor, β-chain gene complex by use of restriction fragment length polymorphisms. Proceedings of the National Academy of Sciences of the United States of America, 87 (12). pp. 4823-4827. ISSN 0027-8424. https://resolver.caltech.edu/CaltechAUTHORS:20150113-092047117

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Abstract

We have studied the genetic segregation of human T-cell receptor beta-chain (TCR beta) genes on chromosome 7q in 40 CEPH (Centre d'Etude du Polymorphisme Humain) families by using restriction fragment length polymorphisms (RFLPs). We constructed haplotypes from eight RFLPs by using variable- and constant-region cDNA probes, which detect polymorphisms that span more than 600 kilobases of the TCR beta gene complex. Analysis of allele distributions between TCR beta genes revealed significant linkage disequilibrium between only 6 of the 28 different pairs of RFLPs. This linkage disequillibrium strongly influences the most efficient order to proceed for typing of these RFLPs in order to achieve maximum genetic informativeness, which in this study revealed a 97.3% level of heterozygosity within the TCR beta gene complex. Our results should provide new insight into recent reports of disease associations with the TCR beta gene complex and should assist in designing future experiments to detect or confirm the existence of disease-susceptibility loci in this region of the human genome.


Item Type:Article
Related URLs:
URLURL TypeDescription
http://dx.doi.org/10.1073/pnas.87.12.4823DOIArticle
http://www.pnas.org/content/87/12/4823PublisherArticle
ORCID:
AuthorORCID
Hood, Leroy E.0000-0001-7158-3678
Additional Information:© 1990 National Academy of Sciences. Contributed by Leroy Hood, April 17, 1990. We gratefully acknowledge J. Tillinghast and T. Mak for supplying DNA probes. We appreciate the technical assistance of W. Shan and J. Nguyen. This work was supported by National Research Service Award GM07104 from the U.S. Public Health Service to P. Charmley and by grants from the American Cancer Society, T-cell Sciences, the Siever Foundation, the U.S. Department of Energy, and the Ataxia-Telangiectasia Medical Research Foundation. R.A.G. is a member of the Jonsson Comprehensive Cancer Center.
Funders:
Funding AgencyGrant Number
US Public Health ServiceGM07104
American Cancer SocietyUNSPECIFIED
T-cell SciencesUNSPECIFIED
Siever FoundationUNSPECIFIED
Department of Energy (DOE)UNSPECIFIED
Ataxia-Telangiectasia Medical Research FoundationUNSPECIFIED
Issue or Number:12
Record Number:CaltechAUTHORS:20150113-092047117
Persistent URL:https://resolver.caltech.edu/CaltechAUTHORS:20150113-092047117
Official Citation:Charmley, P., Chao, A., Concannon, P., Hood, L., & Gatti, R. A. (1990). Haplotyping the human T-cell receptor beta-chain gene complex by use of restriction fragment length polymorphisms. Proceedings of the National Academy of Sciences, 87(12), 4823-4827. doi: 10.1073/pnas.87.12.4823
Usage Policy:No commercial reproduction, distribution, display or performance rights in this work are provided.
ID Code:53612
Collection:CaltechAUTHORS
Deposited By: Jason Perez
Deposited On:13 Jan 2015 19:40
Last Modified:03 Oct 2019 07:51

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