title: Insertion/deletion-related polymorphisms in the human T cell receptor beta gene complex.
abstract: Insertion/deletion related polymorphisms (IDRP) involving stretches of 15-30 kb within the human TCR-beta gene complex were revealed by pulse-field gel electrophoresis. Two independent IDRP systems were detected by analysis of Sfi I- and Sal I-digested human DNA samples using probes for TCR C and V region gene segments. The allelic nature of these systems was verified in family studies, and mapping data allowed localization of one area of insertion/deletion among the V gene segments and the other near the C region genes. All but one of 50 individuals tested could be typed for the two allelic systems, and gene frequencies for the two allelic forms were 0.37/0.61 and 0.46/0.54, indicating that these polymorphisms are widespread.
authors.affiliation: Neuroimmunology Unit, Massachusetts General Hospital, Boston 02114.
authors.forename: E
authors.initials: E
authors.lastname: Seboun
authors.forename: M A
authors.initials: MA
authors.lastname: Robinson
authors.forename: T J
authors.initials: TJ
authors.lastname: Kindt
authors.forename: S L
authors.initials: SL
authors.lastname: Hauser
mesh_terms: D015252:Deoxyribonucleases, Type II Site-Specific; D004587:Electrophoresis, Agar Gel; D005787:Gene Frequency; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D016693:Receptors, Antigen, T-Cell, alpha-beta; D015183:Restriction Mapping
chemical_list: D011948:Receptors, Antigen, T-Cell; D016693:Receptors, Antigen, T-Cell, alpha-beta; C041749:endodeoxyribonuclease SfiI; D015252:Deoxyribonucleases, Type II Site-Specific; C029792:GTCGAC-specific type II deoxyribonucleases