human genome

• Human Genome


  Complete set of genetic information in humans, found in 23 pairs of chromosomes
• Cri-du-chat Syndrome


  Genetic condition caused by deletion on chromosome 5, characterized by cat-like cry
• Chromosome Number


  Number of chromosomes in a cell, species-specific
• Patau Syndrome


  Genetic disorder with three copies of chromosome 13, leading to developmental disruptions
• Non-disjunction


  Failure of chromosomes to separate in Meiosis 1 or Meiosis 2
• Down Syndrome


  Trisomy 21 genetic disorder causing developmental delays and distinct physical features
• Klinefelter Syndrome


  Genetic condition with extra X chromosome (XXY), leading to multiple gene copies
• DNA


  Molecule carrying genetic instructions for growth, development, and functioning in organisms
• Genetic Testing


  Identifies inherited disease risks, guides treatment decisions
• Genes


  Provide instructions for making proteins, the functional molecules in cells
• GWAS


  Genome-wide studies identifying genetic variants linked to common diseases
• Ethical Issues

  Concerns regarding privacy, discrimination, and genetic engineering implications
• Genetic Variation


  Small DNA sequence differences contributing to individual uniqueness and traits
• Genome Sequencing


  Effort to sequence and map all genes in the human genome, completed by the Human Genome Project
• Nucleotides


  Basic units of DNA, with the human genome containing about 3 billion nucleotides
• Trait Variations


  Differences in appearance, disease susceptibility, and medication responses due to genetic variations
• HGP

  Human Genome Project, aimed to sequence and map all human genes, completed in 2003
• Non-coding DNA


  Regulatory DNA sequences controlling gene expression and chromosome structure
• Biological Identity


  Human genome's blueprint influencing health, well-being, and biological characteristics
• Gene Expression


  Process where genes provide instructions for making proteins
• Trait Susceptibility


  Likelihood of developing certain traits or diseases based on genetic makeup
• Mutation


  Spontaneous changes in DNA sequence leading to genetic variations
• Inherited Variations


  Genetic differences passed down from parents to offspring
• Diploid


  Cells with two copies of each chromosome
• Single-Nucleotide Variant (SNV)


  Smallest genomic variation, reflecting a difference in a single nucleotide
• Single-Nucleotide Polymorphism (SNP)


  A subtype of SNVs present in at least 1% of the human population
• Structural Variants


  Large-scale genomic differences involving at least 50 nucleotides
• Copy-Number Variant (CNV)


  Genomic variants distinguished by differences in the total number of nucleotides
• Insertions and Deletions


  Small genomic variants reflecting extra or missing DNA nucleotides
• Tandem Repeats


  Short nucleotide stretches repeated multiple times, highly variable among individuals
• Epigenetic Variation


  Modifications to DNA influencing gene expression and protein synthesis
• Genomic Medicine


  Use of genomic variant information in managing medical care
• Genomic Variation


  Drives evolution and expands biodiversity
• Human Genome Project (HGP)


  Project involving key countries to map the human genome
• Tandem Repeats in Forensics


  Used for DNA profiling in forensics applications
• Genomic Variants Detection Methods


  Techniques to identify different types of genomic variants
• Microarray


  Technology detecting hundreds of thousands of SNVs simultaneously
• Genomic Variation in Medicine


  Relevance of genomic variants in the medical field
• Genomic Variant Testing


  Determining the presence of specific genomic variants in an individual
• Genome Sequencing Cost


  Current cost of sequencing a human genome, now less than $1,000