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Human Genetic Variation definitions

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  • Human Genome
    Composed of about 3.2 billion nucleotide pairs organized into 23 chromosomes, with only a small fraction encoding proteins.
  • Protein-Coding Region
    Genomic segment responsible for specifying proteins, making up less than 2% of the total human genome.
  • Mobile Genetic Elements
    DNA sequences capable of moving within the genome, contributing to genetic diversity and evolution.
  • Non-Coding RNA
    Functional RNA molecules transcribed from DNA that do not translate into proteins but have regulatory or unknown roles.
  • Highly Conserved Sequence
    Genomic region maintained with little change across different species, indicating essential biological functions.
  • Chromosome
    Structure composed of DNA and proteins, carrying genetic information and organized into 23 pairs in humans.
  • Gene
    Segment of DNA that contains instructions for synthesizing proteins or functional RNA molecules.
  • Exon
    Portion of a gene that remains in the mature RNA after splicing and codes for part of a protein.
  • Intron
    Non-coding segment within a gene that is removed during RNA processing and does not contribute to protein sequence.
  • Single Nucleotide Polymorphism
    Variation at a single DNA base pair among individuals, serving as a common source of genetic diversity.
  • Copy Number Variation
    Difference in the number of copies of a particular gene or DNA segment between individuals.
  • CA Repeat
    Tandemly repeated sequence of cytosine and adenine nucleotides, highly variable and used in DNA fingerprinting.
  • DNA Fingerprinting
    Technique for identifying individuals based on unique patterns of genetic markers, such as CA repeats.
  • Human Accelerated Region
    Genomic segment that evolved rapidly in humans compared to other primates, often linked to brain development.
  • Genetic Variation
    Differences in DNA sequences among individuals, underlying traits like hair color, height, and susceptibility to disease.