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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

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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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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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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
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Related Experiment Video

Updated: Apr 13, 2026

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Copy Number Variation at the APOL1 Locus.

Rupam Ruchi1, Giulio Genovese2, Jessica Lee3

  • 1Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States of America; Division of Nephrology, Department of Medicine, University of Florida, Gainesville, Florida, United States of America; Harvard Medical School, Boston, Massachusetts, United States of America.

Plos One
|May 2, 2015
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Summary
This summary is machine-generated.

APOL1 gene copy number variations, specifically duplications, are linked to increased kidney disease risk in African Americans. Further research is needed to understand the full impact of APOL1 copy number on kidney health.

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Area of Science:

  • Genetics
  • Nephrology
  • Human Molecular Genetics

Background:

  • APOL1 gene variants (G1, G2) are major risk factors for kidney disease in African Americans.
  • Kidney disease risk associated with APOL1 variants follows an autosomal recessive pattern, with a 7-30 fold increased risk for individuals with two high-risk variants.

Purpose of the Study:

  • To investigate if structural differences, specifically copy number variation (CNV) in the APOL1 gene, contribute to the variability in APOL1-associated kidney disease phenotypes.
  • To determine the frequency of APOL1 duplications in individuals with and without kidney disease.

Main Methods:

  • Analysis of sequence coverage from 1000 Genomes Project and exome sequencing data to identify copy number variations.
  • Development and application of a PCR-based assay to detect APOL1 duplications.
  • Confirmation of APOL1 copy number using Taqman-based assays.

Main Results:

  • Increased sequence coverage suggesting APOL1 copy number greater than two was observed in 8 samples from the 1000 Genomes Project.
  • A specific APOL1 duplication was detected in 4.06% of kidney disease cases compared to 0.78% of controls with apparent G0G1 heterozygosity (p = 0.03).
  • Taqman assays confirmed the presence of three APOL1 copies in individuals with the identified duplication and identified individuals with other APOL1 copy number variations.

Conclusions:

  • APOL1 gene duplication represents preliminary evidence of an increased susceptibility to kidney disease.
  • Further studies are warranted to elucidate the contribution of APOL1 copy number variations to kidney disease risk and function.
  • Genotyping platforms should be evaluated for potential technical errors when analyzing samples with more than two APOL1 copies.