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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

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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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Translation01:31

Translation

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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Related Experiment Video

Updated: Jul 10, 2025

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
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mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes.

Enrique Garcia-Gaona1, Alhelí García-Gregorio2, Camila García-Jiménez3

  • 1Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, Puebla 72420, Mexico.

Current Issues in Molecular Biology
|November 24, 2023
PubMed
Summary

Mitochondrial DNA (mtDNA) single-nucleotide polymorphisms (SNPs) are linked to type 2 diabetes (T2D) risk. Specific mtDNA variants show significant associations, suggesting a role in T2D development beyond simple point mutations.

Keywords:
mitogenomemtDNApolymorphismtype 2 diabetesvariant

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Area of Science:

  • Genetics and Molecular Biology
  • Metabolic Diseases
  • Mitochondrial Biology

Background:

  • Type 2 diabetes (T2D) is a complex metabolic disorder linked to insulin resistance and mitochondrial dysfunction.
  • Mitochondrial DNA (mtDNA) harbors genetic variations that may influence T2D susceptibility.
  • Previous research suggests a potential role for mtDNA polymorphisms in T2D pathogenesis.

Purpose of the Study:

  • To investigate the association between specific single-nucleotide polymorphisms (SNPs) in complete mtDNA sequences and the risk of developing type 2 diabetes (T2D).
  • To analyze secondary data from a cohort of T2D patients and control individuals to identify significant mtDNA variants.
  • To explore the potential impact of mtDNA genetic variations on T2D etiology.

Main Methods:

  • Secondary analysis of complete mitochondrial DNA (mtDNA) sequences.
  • Comparison of mtDNA SNP frequencies between 1261 T2D patients and 1105 control individuals.
  • Statistical analysis including odds ratios (OR) and 95% confidence intervals (CI) to assess SNP associations with T2D.

Main Results:

  • Significant associations were found between T2D and mtDNA variants m.1438A>G (OR: 2.46), m.14766C>T (OR: 2.57), and m.16519T>C (OR: 1.24).
  • The mtDNA variant m.16189T>C (rs28693675) showed no significant association with T2D in this cohort (OR: 1.03).
  • These findings suggest that mtDNA polymorphisms, potentially through their structural or regulatory effects, are associated with T2D risk.

Conclusions:

  • Specific mitochondrial DNA (mtDNA) single-nucleotide polymorphisms (SNPs) are significantly associated with an increased likelihood of developing type 2 diabetes (T2D).
  • The observed associations may be influenced by the topological and conformational properties of mtDNA regions, rather than solely by individual point mutations.
  • These results contribute to understanding the genetic underpinnings of T2D and highlight the role of mitochondrial genetics.