Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia: Application of High-Density Single Nucleotide Polymorphism Array
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Sarina Sulong
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia: Application of High-Density Single Nucleotide Polymorphism Array
Year: 2010
Copyright (license): CC BY 4.0
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Summary of article contents:
Introduction
Leukaemia, a malignancy affecting white blood cells, can disrupt normal haematopoiesis, leading to uncontrolled cell proliferation and maturity issues. It is primarily classified into acute and chronic types, with early diagnosis and intervention being critical, particularly in childhood acute lymphoblastic leukaemia (ALL). Genetic factors play a significant role in the pathogenesis of ALL, and advancements in cytogenetic and molecular analyses have greatly enhanced our understanding of the critical genes involved in leukaemogenesis. Techniques like high-density single nucleotide polymorphism arrays (SNPA) are increasingly employed for genome-wide screening, particularly in identifying chromosomal alterations and genetic aberrations associated with childhood ALL.
Allelic Imbalance and its Implications
One of the key findings in the study of childhood ALL using SNPA technology is the identification of allelic imbalance, which can indicate the activation of oncogenes or inactivation of tumour suppressor genes. This imbalance often arises from mechanisms such as copy number alterations or loss of heterozygosity (LOH), where genetic changes lead to the preferential retention or loss of specific alleles. The study of allelic imbalance is crucial for understanding the genetic landscape of ALL and can assist in predicting patient outcomes and tailoring targeted therapies. Notably, the identification of uniparental disomy (AID), where an individual inherits both copies of a chromosome from one parent, has been linked to the loss of wild-type alleles and may contribute to the progression of ALL.
Conclusion
The application of high-density SNPA technology has revolutionized the exploration of genetic abnormalities in childhood acute lymphoblastic leukaemia. By identifying allelic imbalances and their associated mechanisms, researchers can gain valuable insights into the genetic underpinnings of the disease. This methodology not only aids in the characterization of ALL but also highlights potential molecular targets for therapeutic interventions. Overall, continued research in this area is essential for further elucidation of the mechanisms involved in leukaemogenesis and for improving clinical outcomes for affected children.
FAQ section (important questions/answers):
What is the significance of using high-density SNP arrays in cancer research?
High-density SNP arrays are significant because they provide a comprehensive view of genetic alterations, allowing for the identification of chromosomal amplifications, deletions, and loss of heterozygosity, which are critical in understanding cancer biology and genetics.
How do genetic factors contribute to childhood acute lymphoblastic leukaemia?
Genetic factors play a crucial role in childhood acute lymphoblastic leukaemia (ALL) by influencing the development of genetic aberrations such as chromosomal translocations and mutations that impact cellular processes, leading to uncontrolled cell growth and progression of the disease.
What methods are used to analyze allelic imbalance in leukaemia?
Methods for analyzing allelic imbalance include traditional cytogenetic techniques, fluorescence in situ hybridization (FISH), microsatellite analysis, comparative genomic hybridization (CGH), and high-density SNP arrays which allows for detailed genome-wide screening.
What role does DNA methylation play in leukaemogenesis?
DNA methylation can promote leukaemogenesis by silencing tumor suppressor genes through aberrant hypermethylation of CpG islands in gene promoters, leading to altered regulation of gene expression and the promotion of cancer development.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Cancer:
Cancer is a disease characterized by uncontrolled cell growth, leading to the formation of tumors that can invade other tissues. The study of cancer genetics, particularly in diseases like leukemia, helps to understand the underlying genetic changes and potential therapeutic targets, making cancer a central focus of medical research.
2) Mutation:
Mutations are changes in the DNA sequence of a cell that can lead to alterations in gene function. In the context of leukemia, mutations in tumor suppressor genes and oncogenes drive the disease's development and progression, providing insights into targeted therapies and disease prognosis.
3) Study (Studying):
Study refers to the systematic investigation of medical phenomena, including cancer. In this context, research studies focused on childhood acute lymphoblastic leukemia aim to unravel genetic alterations, understand disease mechanisms, and improve treatment strategies, thus contributing to medical knowledge and patient care.
4) Blood:
Blood plays a crucial role in the study of leukemia, as this cancer affects the body's hematopoietic system and leads to the abnormal proliferation of white blood cells. Understanding blood cell genetics offers insights into disease mechanisms and the development of effective treatment protocols.
5) Fish:
Fluorescence in situ hybridization (FISH) is a cytogenetic technique used to detect and localize specific DNA sequences. In leukemia research, FISH helps identify chromosomal abnormalities and genetic alterations, providing valuable information for diagnosis and prognosis in blood cancers like acute lymphoblastic leukemia.
6) Disease:
Disease refers to an abnormal condition affecting the body, with leukemia being a critical focus of study in hematology. Understanding the genetic, molecular, and cellular basis of diseases like leukemia can improve diagnosis, treatment, and overall patient outcomes.
7) Science (Scientific):
Science encompasses the systematic study of natural phenomena, including the investigation of cancers like leukemia. Through genetic and molecular studies, scientific research seeks to identify markers, develop therapies, and improve disease understanding, ultimately enhancing patient care and outcomes.
8) Family:
Family refers to the genetic lineage and inheritance patterns that can influence susceptibility to diseases. In leukemia research, understanding familial tendencies helps identify genetic predispositions, contributing to early detection, risk assessment, and targeted interventions in populations at risk.
9) Repair:
DNA repair mechanisms are essential in maintaining genomic integrity. Defects in these systems can lead to mutations and contribute to cancer development. In leukemia, understanding DNA repair pathways aids in identifying therapeutic targets and can inform strategies to overcome treatment resistance.
10) Bird:
Bird, in the context of cancer research, may refer to the work of notable researchers or studies focusing on genetic alterations in leukemia. Reviewing contributions from influential figures helps contextualize advancements in understanding disease mechanisms and treatment development.
11) Rich (Ṛch):
Rich refers to areas in the genome with dense genetic alterations or specific loci associated with cancer. Understanding these rich regions can reveal critical oncogenes or tumor suppressor genes, aiding in targeted therapies and personalized medicine approaches in cancers like leukemia.
12) Line:
Line often refers to genetic lineages and the classification of diseases in terms of lineage differentiation. This concept is crucial in understanding the origins of blood cancers, which can have distinct genetic backgrounds and implications for treatment and prognosis.
13) Pur (Pūr):
Poor prognosis in cancer signifies a high risk of treatment failure or disease recurrence. Identifying genetic factors associated with poor outcomes informs treatment decisions and supports research aimed at improving survival rates for affected individuals.
14) Transformation (Transform, Transforming):
Transformation in cancer biology refers to the process by which normal cells undergo changes to become malignant. Studying the transformation of hematopoietic cells into leukemic cells can reveal crucial insights into the initiation and progression of blood cancers.
15) Performance:
Performance often refers to the effectiveness of diagnostic and therapeutic strategies. In leukemia research, understanding the performance of genetic screening methods helps gauge their utility in identifying patients at risk and tailoring personalized treatment regimens.
16) Knowledge:
Knowledge in medical research involves understanding the genetic and biological underpinnings of diseases like leukemia. Advancements in knowledge drive innovations in diagnostics and treatment, facilitating improved patient outcomes and personalized therapeutic approaches.
17) Activity:
Activity refers to the function and responsiveness of genes and proteins within cellular pathways. In leukemia, monitoring gene activity can help identify abnormalities responsible for aberrant cell growth and provide targets for therapeutic intervention.
18) Relative:
Relative in genetics often pertains to the relationship of genetic variations among individuals. Understanding relative genetic alterations aids in elucidating patterns associated with familial predispositions to diseases like leukemia, contributing to risk stratification in patients.
19) Account:
Account in research involves detailing findings and interpretations derived from studies. Providing an account of genetic aberrations in leukemia elucidates the complex landscape of the disease and informs further research directions and therapeutic targets.
20) Surface:
Surface expressions of cell markers are critical in differentiating between various types of leukemias. Identifying surface markers helps classify the disease and inform treatment strategies, as they often correlate with biological behavior and patient prognosis.
21) Potter:
Potter may reference seminal research or findings related to cancer genetics and could relate to studies that have shaped our understanding of genetic factors in leukemia, illustrating the historical context and evolution of research in the field.
22) Nature:
Nature pertains to the inherent traits of biological systems, including genetic and epigenetic factors involved in cancer development. Understanding the nature of these processes is integral to developing effective prevention and treatment strategies for leukemia.
23) Barber:
Barber may refer to researchers noted for their contributions to cancer research. Recognizing key authors helps illuminate influential work in understanding genetic alterations in diseases such as leukemia.
24) Patil (Pāṭīl):
Patil could represent an author or a significant figure in cancer research. Acknowledging contributions from diverse researchers emphasizes the collaborative nature of advancing scientific knowledge, particularly concerning childhood leukemias and their genetic underpinnings.
25) Chang:
Chang might symbolize notable contributions in cancer genetics. Recognizing the work of various researchers highlights the collaborative effort required to enhance understanding and management of complex diseases such as leukemia.
26) Takai (Takāi):
Takai could refer to groundbreaking research in the genetic basis of various cancers, including leukemia. Acknowledging the work and findings associated with influential scientists underscores the collective progress made in cancer research.
27) Death:
Death signifies the ultimate consequence of unresolved or untreated cancers, including leukemia. Studying the factors associated with mortality aids in structuring effective treatments and understanding the disease's aggressive nature.
28) Wolf:
Wolf may indicate significant contributors to cancer research. Recognition of various contributors emphasizes the holistic effort in understanding the genetic landscape of diseases like leukemia and drives forward the quest for improved therapies.
Other Science Concepts:
Discover the significance of concepts within the article: ‘Genetic Aberrations in Childhood Acute Lymphoblastic Leukaemia’. Further sources in the context of Science might help you critically compare this page with similair documents:
Gene, Bone marrow, Genetic basis, Tumour, Advanced technologies, Data analysis, Gene expression, Tumor suppressor gene, Single nucleotide polymorphism, Microsatellite markers, Real-time PCR, DNA methylation, Genetic factor, Cell division, T cell, Gene mutation, Chromosomal abnormalities, DNA Analysis, Cancer research, Epigenetic Change, Genetic Variation, Molecular characteristics, DNA damage, Tumor cell, B-cells, Cell growth, Chromosome number, Genomic DNA, Loss of heterozygosity, White blood cell, DNA repair, Molecular Therapeutics, Copy number, Cytogenetic analysis, Candidate gene, Genetic studies, Oncogene, Cell death, DNA damage response, Acute myeloid leukemia, Prognostic significance, Chromosomal Translocation, Human genome, Acute lymphoblastic leukaemia, Human DNA, Stem cell, Methylation markers, Quantitative real-time PCR, Chromosome 9p, Gene amplification, Protein kinase, Karyotype, Oncogenic potential, Chromosome 12, High resolution method, Acute myeloid leukaemia, Tumour suppressor gene, T cell ALL, Genomic alterations, CpG island, Childhood leukemia, Childhood ALL, Molecular analyses, Oncogene activation, Haematopoietic system, DNA Repair gene.
Concepts being referred in other categories, contexts and sources.