LP190358-4
IGH gene rearrangements
Active
Description
The IGH gene (immunoglobulin heavy locus) [HGNC Gene ID: 5477] is located on chromosome 14q32.33. Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Oct 2013] [NCBI Gene ID: 3492] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- IGH gene rearrangements
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-04-07
- Construct for LOINC Short Name
- IGH gene rearrange
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | IGH 基因重排 Synonyms: IGH 基因重排（重组） |
| es-ES | Spanish (Spain) | Reordenamientos del gen IGH |
| it-IT | Italian (Italy) | Riarrangiamento del gene IGH Synonyms: Riarrangiamenti del gene della catena pesante dell |
| tr-TR | Turkish (Turkey) | IGH geni yeniden düzenleme |
| nl-NL | Dutch (Netherlands) | IGH-genherschikking Synonyms: IGH-gentranslocatie |
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