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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

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Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
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Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

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Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
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Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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[Copy number variations and 'schizophrenia'].

J P M Neyndorff, R F P de Winter, J D Blom

    Tijdschrift Voor Psychiatrie
    |February 19, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Copy number variations (CNVs) are genetic changes impacting schizophrenia risk. Research reveals these CNVs complicate the genetic basis of psychosis, suggesting a more nuanced understanding is needed.

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    Area of Science:

    • Genetics
    • Psychiatry
    • Molecular Biology

    Context:

    • Schizophrenia is known to have a significant hereditary component (40-80%).
    • Copy number variations (CNVs) represent a class of genetic variations.
    • The precise role of CNVs in the genetic architecture of schizophrenia remains to be fully elucidated.

    Purpose:

    • To review current knowledge on CNVs in relation to psychosis.
    • To explore the implications of CNV research for the definition and diagnosis of schizophrenia.
    • To assess the impact of CNVs on the treatment of psychotic disorders.

    Summary:

    • A literature search identified 23 CNVs associated with increased psychosis risk.
    • The relationship between CNVs and psychosis is complex, with CNVs often linked to multiple disorders.
    • Factors such as gene modifiers and environmental influences affect CNV penetrance.

    Impact:

    • CNV research highlights the intricate nature of psychosis heredity, surpassing earlier models.
    • Future research may lead to a redefinition of the schizophrenia concept and blurred diagnostic boundaries.
    • Genetic counseling may become integrated into routine psychiatric diagnostics.