Cyto- semis

• What is apoptosis?

  Programmed cell death
• Why is apoptosis important in humans?

  It balances cell growth and cell death to maintain body weight
• What does the word "apoptosis" mean in ancient Greek?

  Falling of petals from a flower
• In what context was the term "apoptosis" first used?

  As "cell death" in a classic paper
• What are the two mechanisms of cell death mentioned?

  • Apoptosis (programmed cell death)
  • Accidental/ordinary cell death
• What is the role of apoptosis in development?

  It eliminates aged or damaged cells
• How does apoptosis prevent cancer?

  By eliminating cells that are beyond repair
• What diseases are associated with dysfunctional apoptosis?

  Neurodegenerative diseases like Parkinson's and hemorrhagic stroke
• What are the key components of apoptotic pathways?

  • Intrinsic pathway (mitochondria)
  • Apoptotic signaling
  • Involvement of 30-50 genes
• What is single nucleotide polymorphism (SNP) mapping?

  The easiest and most reliable way to map genetic profiles
• What techniques are used to detect known polymorphisms?

  • Hybridization methods
  • Enzyme-based techniques
  • Direct sequencing
  • SNP screening
  • SNP genotyping methods
• What is a haplotype?

  A group of closely linked genetic markers on a chromosome
• How does haplotype correlate with phenotype?

  It is linked to be inherited together
• What is the significance of SNPs in genetics?

  They are the most frequent form of DNA variation
• What can SNPs indicate in terms of health?

  They can indicate disease-causing mutations in many genes
• What are the most frequent forms of DNA variations?

  Single nucleotide polymorphisms (SNPs)
• Why are SNPs significant in genetics?

  They are disease-causing mutations in many genes
• What is a key characteristic of SNPs regarding mutation rates?

  SNPs have slow mutation rates
• How do haplotypes relate to SNPs?

  Haplotypes combine information from adjacent SNPs into composite multilocus haplotypes
• What advantage do haplotypes provide in genetic studies?

  They capture regional linkage disequilibrium (LD) information
• How can haplotype frequencies be utilized in genetics?

  They can help associate with desired phenotypic frequencies in populations
• What is a haplotype?

  • A set of closely linked genetic markers on one chromosome
  • Tends to be inherited together
  • Not easily separable by recombination
• What is the purpose of SNP genotyping methods?

  To detect genes contributing to susceptibility or resistance to multifactorial diseases
• What are some applications of SNPs in medicine?

  They are used in disease diagnosis, drug discovery, and understanding drug responses
• What is the limitation of Sanger dideoxy sequencing?

  It misses polymorphisms when the DNA is heterozygous
• When is direct sequencing particularly useful?

  When a sample is known to contain a polymorphism in a specific region
• What are some techniques to detect unknown polymorphisms?

  • Direct Sequencing
  • Microarray
  • Cleavage / Ligation
  • Electrophoretic mobility assays
  • Comparative Techniques
• What are some techniques to detect known polymorphisms?

  • Hybridization Techniques
  • Microarrays
  • Real-time PCR
  • Enzyme-based Techniques
  • Nucleotide extension
• How do SNPs help in predicting drug responses?

  They help predict an individual's response to certain drugs and susceptibility to environmental factors
• What is the significance of SNP mapping?

  SNP mapping is the easiest and most reliable way to map genes
• What is the frequency of SNP occurrence in the human genome?

  SNPs occur about 1 in 1000 to 1 in 200 to 300 bases
• What can SNPs in coding regions do?

  They may alter the protein structure produced by that coding region
• What percentage of bases are the same in human beings?

  99.9 percent
• What can variations in the remaining 0.1 percent of bases lead to?

  They can lead to different attributes, characteristics, or traits
• What are some examples of harmful variations?

  Diabetes, cancer, heart disease, Huntington’s disease, and hemophilia
• What is abortive apoptosis in sperm cells?

  It is when defective sperm cells escape programmed cell death and are present in the ejaculate
• What role does apoptosis play in spermatogenesis?

  It limits the population of germ cells and selectively depletes abnormal germ cells
• What are the components of the intrinsic pathway of apoptosis?

  • Bcl-2 family proteins
  • Cytochrome c
  • Adaptor proteins
  • Caspases
• What initiates the intrinsic pathway of apoptosis?

  Intracellular signals such as radiation, absence of growth factors, hormones, and cytokines
• What is the role of cytochrome c in the intrinsic pathway?

  It binds and activates Apaf-1 and procaspase-9, forming an apoptosome