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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Copy number variation in pediatric multiple sclerosis.

J P McElroy1, L B Krupp, B A Johnson

  • 1Department of Neurology, University of California at San Francisco, USA. Joseph.McElroy@OSUMC.edu

Multiple Sclerosis (Houndmills, Basingstoke, England)
|December 15, 2012
PubMed
Summary
This summary is machine-generated.

This study investigated copy number variations (CNVs) in pediatric multiple sclerosis (MS) patients. While no direct cause was found, a rare CNV linked to ARSACS disease was identified, aiding diagnosis and prognosis.

Keywords:
Multiple sclerosiscopy number variationpediatric

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Pediatric multiple sclerosis (MS) comprises 2-4% of all MS cases.
  • The underlying pathophysiology of pediatric MS versus adult MS remains unclear.
  • Copy number variations (CNVs) are hypothesized to cause extreme early-onset diseases due to their potential to affect multiple genes.

Observation:

  • Comparative genomic hybridization (CGH) was used to analyze 30 pediatric MS patients and their parents.
  • The study focused on identifying de novo CNVs, which are newly occurred genetic variations.
  • Agilent 1M CGH array was employed for high-resolution analysis.

Findings:

  • Ten novel CNVs, not previously reported in the Database of Genomic Variants (DGV), were identified.
  • Fifty-five putatively de novo CNVs were found, with most being common in the DGV.
  • One rare, private CNV was discovered, encompassing the SACS gene, associated with autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Implications:

  • This is the first study to analyze CNVs in pediatric MS.
  • The identified SACS gene CNV led to the diagnosis of ARSACS-like disease alongside MS in one patient.
  • The findings improve understanding of disease course and prognosis in complex pediatric neurological cases.