title: Restriction fragment length polymorphism of the gene encoding the alpha chain of the human T cell receptor.
abstract: 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.
authors.forename: M L
authors.initials: ML
authors.lastname: Hoover
authors.forename: J
authors.initials: J
authors.lastname: Marks
authors.forename: J
authors.initials: J
authors.lastname: Chipman
authors.forename: E
authors.initials: E
authors.lastname: Palmer
authors.forename: P
authors.initials: P
authors.lastname: Stastny
authors.forename: J D
authors.initials: JD
authors.lastname: Capra
mesh_terms: D001426:Bacterial Proteins; D002460:Cell Line; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D005796:Genes; D006801:Humans; D008214:Lymphocytes / Q000032:analysis; D009841:Oligonucleotides / Q000032:analysis; D011110:Polymorphism, Genetic; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*
chemical_list: D001426:Bacterial Proteins; D009841:Oligonucleotides; D011948:Receptors, Antigen, T-Cell; D004247:DNA; D004262:DNA Restriction Enzymes; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific