L5: The Human Genome Project

• What significant achievement did J. Craig Venter's laboratory accomplish in 1995?

  They produced the first complete genome sequence of an organism, Haemophilus influenzae Rd.
• What was the primary focus of the genomic projects that followed the sequencing of Haemophilus influenzae Rd.?

  They concentrated on sequencing genomes related to diseases.
• When was the first draft complete sequence of the Human Genome Project reported?

  April 14, 2003.
• What is significant about April 14, 2003, in the context of genetics?

  It marks the 50th anniversary of the description of the double helix structure of DNA.
• What were the main goals of the Human Genome Project (HGP)?

  • Identify all genes in human DNA
  • Determine sequences of DNA base pairs
  • Store information in databases
  • Improve tools for data analysis
  • Transfer technologies to the private sector
  • Address ethical, legal, and social issues
• How many protein-coding genes were found in the human genome?

  Approximately 22,000 protein-coding genes.
• What is the approximate size of the haploid human genome?

  About 3,200,000,000 base pairs (3.2 Gbp).
• What evolutionary insight can be gained from comparing human and chimpanzee genomes?

  It helps identify genes that contribute to uniquely human traits.
• Who was awarded in 2022 for work related to Neanderthals?

  Svante Pääbo.
• How can personalized medicine benefit from the Human Genome Project?

  It allows for tailored treatments based on individual genetic profiles.
• What is the potential impact of identifying gene functions on medicine?

  It could lead to predictive, preventative, and personalized medicine.
• What ethical concerns arise from genetic information usage?

  There are concerns about fair use, employment discrimination, and psychological impacts.
• Who proposed the Central Dogma of Molecular Biology in 1958?

  Francis Crick.
• What does the Central Dogma of Molecular Biology describe?

  It describes the transfer of information from DNA to RNA to protein.
• What questions does the central dogma raise regarding genetic information?

  • What is the nature of genetic information?
  • How is genetic information duplicated during cell division?
  • How is genetic information read?
  • How can we use this information?
• Who is known as the founder of genetics?

  Gregor Johann Mendel.
• Why did Mendel choose to work with pea plants?

  They produce large numbers of offspring and have a short generation time.
• What is a simple monohybrid cross in Mendelian genetics?

  • Involves a single trait (e.g., pea color)
  • Crosses pure-breeding strains (e.g., green and yellow peas)
  • Results in offspring with dominant traits (e.g., yellow seeds)
• What was the timeline of significant genomic projects from 1995 to 2025?

  Projects included sequencing Saccharomyces cerevisiae in 1996, the Human Genome Project completion in 2003, and ongoing projects like the 1,000 Genomes Project.
• What is the significance of the chromosome fusion event in human evolution?

  It indicates that two chimpanzee chromosomes fused in humans, contributing to our unique traits.
• How does the BRCA1 gene relate to breast cancer risk?

  A faulty BRCA1 gene increases breast cancer risk from 12.5% to 60-90% in women.
• What psychological impacts might arise from knowing one's genetic predisposition?

  Individuals may experience anxiety or stigma associated with having a genotype linked to a short life.
• Who is considered the founder of genetics?

  Gregor Mendel
• What did Gregor Mendel demonstrate about inheritance in pea plants?

  He showed that the inheritance of certain traits follows specific patterns.
• What is a characteristic of pea plants that Mendel utilized in his experiments?

  Both self-fertilisation and cross-fertilisation are possible.
• What was the unexpected result of Mendel's simple monohybrid cross?

  All F1 progeny produced yellow seeds, contradicting the blending theory.
• What trait did Mendel call dominant in his pea plant experiments?

  Yellow pea color
• What did Mendel observe in the next generation after a test cross?

  Despite not being visible in F1, the green pea trait was still present but masked by yellow.
• What term did Mendel use to describe the green pea trait?

  Recessive trait
• What is the First Law of Inheritance according to Mendel?

  • Law of Segregation
  • Two alleles for each trait segregate during gamete formation.
  • Each gamete receives only one allele.
  • Offspring receive one allele from each parent.
  • Dominant allele determines the trait expression.
• How does the Law of Segregation apply to pea color inheritance?

  It results in discrete inheritance rather than blending of traits.
• What ratio did Mendel predict for yellow to green peas in the F2 generation?

  A predicted ratio of 3:1 for yellow to green peas.
• What did Mendel actually observe in the F2 generation regarding yellow and green peas?

  He observed a ratio of approximately 3.01:1 for yellow to green peas.
• What were the results of Mendel's experiments with different pea characteristics?

  • 3:1 ratio for yellow to green peas (6022 yellow, 2001 green)
  • 2.96:1 ratio for round to wrinkled peas (5474 round, 1850 wrinkled)
  • 3.15:1 ratio for purple to white flowers (705 purple, 224 white)
  • 2.95:1 ratio for inflated to constricted pods (822 inflated, 299 constricted)
  • 2.82:1 ratio for axial to terminal flowers (651 axial, 207 terminal)
  • 3.14:1 ratio for standard to dwarf plants (787 standard, 277 dwarf)
• Is inheritance always discrete according to Mendel's findings?

  No, early findings cannot describe the complexity of inheritance.
• Who proposed the chromosome theory of inheritance in 1902?

  Walter Sutton
• What did Walter Sutton discover about grasshopper cells?

  Female grasshoppers have 22 chromosomes plus an XX pair, while males have 22 chromosomes plus an X (X0).
• What did Sutton conclude about Mendel's factors?

  He proposed that Mendel's factors were carried on chromosomes.
• Who discovered sex-linked inheritance in 1910?

  1. H. Morgan
• What was the characteristic of wild-type fruit flies observed by Morgan?

  They have red eyes, while some mutant flies have white eyes.