How are chromosomal rearrangements diagnosed?
What is chromosome rearrangement?
How many copies of each chromosome are recombinated?
What happens to chromosomes during recombination?
How many chromosomes are in a complete set of genetic information?
How common are balanced rearrangements?
What are the two categories of rearrangements?
See 2 more
What is the purpose of gene rearrangement?
Rearrangements in these genes are a normal part of T-cell development. The purpose of the rearrangements is to produce a wide variety of receptors within the T-cell population to recognize and address the vast number of antigens that a person may encounter.
What is immunoglobulin gene rearrangement?
B-cell immunoglobulin gene rearrangement tests are used to help diagnose non-Hodgkin B-cell lymphomas and evaluate for residual or recurrent disease after treatment. There are many different types of B-cell lymphoma and each has different characteristics, prognoses, and a likely response to therapy.
Where does antibody gene rearrangement occur?
During early B-cell differentiation in the bone marrow (BM) the variable (V), diversity (D), and joining (J) gene segments of the immunoglobulin (Ig) genes are rearranged in an ordered fashion to generate the primary Ig repertoire.
What is DJ rearrangement?
The key cells of the adaptive immune response are the lymphocytes- the B and T cells. And the antigen receptors for T cells and B cells have a lot of things in common, one of which is that they share the same mechanism - called VDJ rearrangement - to generate a massively diverse set of receptors.
What are the 4 types of gene rearrangements?
Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations.
What happens when there is non productive rearrangement of the immunoglobulin genes?
Splicing between gene segments is imprecise, sometimes resulting in nonproductive rearrangements in which frame shift mutations yield stop codons downstream and no complete H or L chain can be produced.
What is gene rearrangement testing?
A laboratory test in which cells in a sample of blood or bone marrow are checked to see if there are certain changes in the genes that make receptors on T cells (white blood cells).
What are the 5 types of chromosomal rearrangement?
The four types of chromosomal changes are deletions, inversions, duplications, and translocations.
What is T cell gene rearrangement?
T cell receptor (TCR) gene rearrangement is an important event in T cell ontogeny that enables T cells to recognise antigens specifically, and any dysregulation in this complex yet highly regulated process may result in disease.
What is the 12 23 rule?
The 12/23 rule, which is mediated at the level of RAG-1/2 recognition and cutting, specifies that V(D)J recombination occurs only between a gene segment flanked by a 12-RSS and one flanked by a 23-RSS.
What is the concept of DJ?
A disc jockey, more commonly abbreviated as DJ, is a person who plays recorded music for an audience.
What is the purpose of VDJ recombination?
VDJ recombination is the process by which T cells and B cells randomly assemble different gene segments – known as variable (V), diversity (D) and joining (J) genes – in order to generate unique receptors (known as antigen receptors) that can collectively recognize many different types of molecule.
What happens during the rearrangement of immunoglobulin genes?
Immunoglobulin heavy-chain gene rearrangement begins in early pro-B cells with D to JH joining. This typically occurs at both alleles of the heavy-chain locus, at which point the cell becomes a late pro-B cell. The cell then proceeds to rearrange a VH gene segment to the DJH sequence.
What does positive for clonal immunoglobulin gene rearrangement mean?
In addition, clonal immunoglobulin gene rearrangements are demonstrable in a subset of lymphomas that lack detectable surface or cytoplasmic immunoglobulin, thus offering positive evidence for both malignancy and the B-cell origin of these tumors.
What are the immunoglobulin genes?
The immunoglobulin genes encode immunoglobulins that are produced exclusively by B cells. Immunoglobulin molecules are heterodimeric proteins consisting of two identical heavy chains linked with two identical light chains, kappa (κ) and lambda (λ). The immunoglobulin genes are located on different chromosomal loci.
How does immunoglobulin replacement therapy work?
Immunoglobulin replacement therapy (Ig) is the only treatment for most PID patients. It involves undergoing a blood-based infusion at regular intervals to raise the antibodies needed to fight off infection. It can be administered either intravenously or subcutaneously.
Acknowledgements
This work was supported by grants from the Ministry of Health of the Czech Republic IGA NT13493-4/2012 and AZV 15-30015A, Internal Grant of the Medical Faculty of Masaryk University no.
Author information
K Brazdilova and K Plevova: These authors contributed equally to this work.
Rights and permissions
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License.
Further reading
Langerak AW, Davi F, Ghia P, Hadzidimitriou A, Murray F, Potter KN et al. Immunoglobulin sequence analysis and prognostication in CLL: guidelines from the ERIC review board for reliable interpretation of problematic cases. Leukemia 2011; 25: 979–984.
How are chromosomal rearrangements diagnosed?
Chromosomal rearrangements are diagnosed through genetic testing. Most tests use DNA from a blood sample or a cheek swab. Some rearrangements happen more often than others, and some give rise to syndromes with signature characteristics. Based on a person's characteristics, a doctor may order a specific test on just one chromosome to a confirm a diagnosis. Other tests look more broadly at all of the chromosomes. Some rearrangements can be detected before birth, through prenatal genetic testing. These tests are done during pregnancy on a DNA sample from the developing baby. They measure the number and arrangement of all of the baby's chromosomes.
What is chromosome rearrangement?
A chromosomal rearrangement means that pieces of chromosomes are missing, duplicated (there are extra copies), or moved around. The effects vary. They depend on which chromosome pieces are involved and how they are rearranged. Some have no effect, some are incompatible with life, and others are somewhere between.
How many copies of each chromosome are recombinated?
This process of recombination and seperation happens with all of the chromosomes at once, so that each egg or sperm gets one recombined copy of each chromosome.
What happens to chromosomes during recombination?
During recombination, pairs of chromosomes duplicate, swap pieces, and separate.
How many chromosomes are in a complete set of genetic information?
A complete set of genetic information consists of 46 chromosomes. Each parent contributes 23 chromosomes.
How common are balanced rearrangements?
Balanced rearrangements are fairly common, affecting about 1 in 1,000 people. They make up a large proportion of couples seeking fertility treatment.
What are the two categories of rearrangements?
Rearrangements fall broadly into two categories: balanced and unbalanced.
Abstract
The immunoglobulin heavy chain variable (IGHV) gene mutational status represents a major prognostic marker in chronic lymphocytic leukemia (CLL). Usually, the prognostic implications of IGHV gene analysis can be reliably ascertained but, occasionally, double productive rearrangements have been detected.
Introduction
Chronic lymphocytic leukemia (CLL) is a clonal disorder that results from the proliferation of mature‐appearing, CD5‐positive B lymphocytes 1.
Materials and Methods
We searched the database of six Hematology Institutions of our region between 1998 and 2011 for patients with CLL and double IGHV rearrangements.
Results
The characteristics at presentation of the 60 patients with double IGHV rearrangement are shown in Table 1. Their features were compared to a series of 495 controls with single IGHV rearrangement from a single Institution that were diagnosed in the same time frame. No significant differences emerged from this comparative analysis (Table 1 ).
DISCUSSION
In this study we analyzed for the first time the prevalence and the clinical significance of double productive rearrangements of IGHV genes in patients affected by CLL without morphological and/or phenotypical evidence of biclonality.
Supporting Information
Additional Supporting Information may be found in the online version of this article.
What is Rearrangement Reaction?
The term “rearrangement” is used to describe two different types of organic chemical reactions. A rearrangement may involve the one step migration of an H atom or of a larger molecular fragment within a relatively short lived intermediate.
What is the first step of the isomerization of allyl aryl ethers to ortho?
The classical claisen rearrangement is the first and slow step of the isomerization of allyl aryl ethers to ortho allylated phenols. A cyclohexadienone is formed in the actual rearrangement step which is a [3,3]-sigmatropic rearrangement. Three valence electron pairs are shifted simultaneously.
What is the Claisen rearrangement?
The claisen rearrangement is a thermal rearrangement of allyl aryl ethers and allyl vinyl ethers respectively. It may be regarded as the oxa-version of the closely related cope rearrangement. Claisen has discovered this reaction first on allyl vinyl ethers and then extended to the rearrangement of allyl aryl ethers to yield o-allylphenols.
What is the product of Beckmann rearrangement?
Beckmann rearrangement of the oxime of cyclohexanone is carried out on a very large scale industrially because the product, caprolactam, is the direct precursor of nylon 6, a versatile polymer that has many applications: for example, the manufacture of fibres for carpeting and other textiles. Concentrated sulphuric acid is used as both the acid catalyst and the solvent for the reaction.
What is the second key point in pericyclic reactions?
Second key point in pericyclic reactions involves a cyclic shift of electrons. The word pericyclic means around the circle. Pericyclic words come from the cyclic shift of electrons. Pericyclic reactions thus are characterized by a cyclic transition state involving the pi bonds.
What is pericyclic reaction?
Pericyclic reactions are defined as the reactions that occur by a concerted cyclic shift of electrons. This definition states two key points that characterize a pericyclic reaction. First point is that reaction is concerted. In concerted reaction, reactant bonds are broken and product bonds are formed at the same time without intermediates.
How are pericyclic reactions activated?
Activation – Pericyclic reactions are activated either by thermal energy or by UV light. However, many reactions that require heat are not initiated by light and vice versa. The number of pi bonds involved in the reaction. The stereochemistry of the reaction.
How are chromosomal rearrangements diagnosed?
Chromosomal rearrangements are diagnosed through genetic testing. Most tests use DNA from a blood sample or a cheek swab. Some rearrangements happen more often than others, and some give rise to syndromes with signature characteristics. Based on a person's characteristics, a doctor may order a specific test on just one chromosome to a confirm a diagnosis. Other tests look more broadly at all of the chromosomes. Some rearrangements can be detected before birth, through prenatal genetic testing. These tests are done during pregnancy on a DNA sample from the developing baby. They measure the number and arrangement of all of the baby's chromosomes.
What is chromosome rearrangement?
A chromosomal rearrangement means that pieces of chromosomes are missing, duplicated (there are extra copies), or moved around. The effects vary. They depend on which chromosome pieces are involved and how they are rearranged. Some have no effect, some are incompatible with life, and others are somewhere between.
How many copies of each chromosome are recombinated?
This process of recombination and seperation happens with all of the chromosomes at once, so that each egg or sperm gets one recombined copy of each chromosome.
What happens to chromosomes during recombination?
During recombination, pairs of chromosomes duplicate, swap pieces, and separate.
How many chromosomes are in a complete set of genetic information?
A complete set of genetic information consists of 46 chromosomes. Each parent contributes 23 chromosomes.
How common are balanced rearrangements?
Balanced rearrangements are fairly common, affecting about 1 in 1,000 people. They make up a large proportion of couples seeking fertility treatment.
What are the two categories of rearrangements?
Rearrangements fall broadly into two categories: balanced and unbalanced.
