Version 2.80

Description

The T-cell receptor (TCR) is a cell-surface receptor that is composed of two polypeptide chains that are linked by a disulfide bond. In peripheral T-cells, approximately 85% of TCR consist of an alpha and beta chain, while the rest have gamma and delta. TCRs have multiple domains including constant (C), variable (V), joining (J) and diversity (D) domains. The TCR beta gene locus (TRB) is located on chromosome 7q34 and includes nearly 70 V genes that are grouped into families ("TRBV families") based upon greater than 75% nucleotide sequence identity. During T-cell development in the thymus, V, D, and J segments undergo somatic rearrangement to form complete V domain exons that are responsible for antigen recognition. The diversity of the T-cell repertoire depends on recombination as well as nucleotide insertion and deletion at junctional sites (V-J, D-J, and V-D). PMID: 12499424 Although nearly 70 TRBV gene segments have been identified, studies have shown that the total number of functional TRBV gene segments expressed by a healthy individual varies from 42 to 47 due to 7 frequently occurring inactivating polymorphisms and a large insertion/deletion-related polymorphism encompassing 2 TRBV gene segments. PMID: 12493004 TRBV repertoire analysis is used to determine the number of gene segments and their relative frequency as expressed by an individual. The total number of gene segments present is identified based on various techniques including fragment length analysis, and specific probes are used to identify a common set of gene segments. From these data, the diversity ratio is calculated as the relative number of gene segments from a particular gene family compared to the total. Because some portion of gene segments that are counted in the total will not correspond to any of the probes and therefore will not be identified as belonging to a specific TRBV gene family, the total of the diversity ratios reported will not equal 100%. Analysis of the TRBV repertoire, including the number of gene families present and their relative proportions can be used to evaluate primary immunodeficiencies, monitor immune reconstitution after hematopoietic steam cell transplantation, and assess temporal repertoire changes in autoimmune diseases and viral infections. Source: Regenstrief LOINC

Basic Part Properties

Part Name
TRBV7 gene segments
Part Display Name
TRBV7 gene segments
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-06-29
Construct for LOINC Short Name
TRBV7 seg

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP220327-3

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Segmentos del gen TRBV7
zh-CN Chinese (China) TRBV7 基因片段类
Synonyms: TRBV7 基因片段类(片段、节段、段);T 细胞受体 Beta 可变区 7 (基因/假基因) 基因片段;T-细胞受体β可变区 7 (基因/假基因) 基因片段;T Cell Receptor Beta Variable 7 (Gene/Pseudogene) gene segment
nl-NL Dutch (Netherlands) TRBV7-gensegmenten
Synonyms: TRBV7 gen segmenten
it-IT Italian (Italy) TRBV7, segmenti gene
Synonyms: Segmenti gene TRBV7
el-GR Greek (Greece) Τμήματα γονιδίου TRBV7
Synonyms: Τμήματα γονιδίου TRBV7