Journal of Experimental Medicine, Vol 162, 1087-1092, Copyright © 1985 by Rockefeller University Press

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Restriction fragment length polymorphism of the gene encoding the alpha chain of the human T cell receptor

ML Hoover, J Marks, J Chipman, E Palmer, P Stastny and JD Capra

Two allelic forms of the T cell antigen receptor alpha chain gene were discerned by restriction fragment length polymorphism (RFLP) employing the T cell antigen receptor alpha chain probe pGA5, and the restriction enzyme Bgl II. Analysis revealed that the polymorphic fragments are detected by a probe specific for the constant region exon of the T cell antigen receptor alpha chain gene. Furthermore, the polymorphic fragments were shown to segregate within families. The two allelic forms yield two homozygous states, 3.2/3.2 and 2.9/2.9, at a frequency of 76.5 and 2.9%, respectively, within the normal population. The heterozygous state was observed in 20.6% of the population. The discovery of allelic forms of both the alpha and beta chains of the T cell antigen receptor genes may provide a unique opportunity to study heritable markers of T cell function in several human diseases.
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This article has been cited by other articles:

• Hoover, M.L., Angelini, G., Ball, E., Stastny, P., Marks, J., Rosenstock, J., Raskin, P., Ferrara, G.B., Tosi, R., Capra, J.D. (1986). HLA-DQ and T-cell Receptor Genes in Insulin-dependent Diabetes Mellitus. Cold Spring Harb Symp Quant Biol 51: 803-809 [Abstract]  

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