Final Exam Flashcards
(94 cards)
What is the fundamental division of life and how is it organized in humans?
- Life is cellular.
- In humans, life is organized into 30 trillion cells, each containing genetic material inside a nucleus.
- This genetic material is organized into chromosomes.
What are chromosomes and how many do humans have?
Chromosomes are packages of genetic material made of DNA.
Humans are diploid and have 23 pairs of chromosomes: 22 pairs of autosomes and 1 pair of sex chromosomes (XX or XY).
What is the significance of human chromosome #2?
It is the result of a fusion of two ancestral chromosomes found in chimps. This fusion event occurred 0.75–4.5 million years ago and contributed to the genetic isolation of humans from other great apes.
What is DNA and how is genetic information stored in it?
DNA (deoxyribonucleic acid) is a double helix made of nucleotides: A pairs with T, G pairs with C.
The sequence of these bases stores genetic information, and the strands are complementary.
What are the three steps in the flow of genetic information in a cell?
- Replication – DNA is copied before cell division.
- Transcription – DNA is transcribed into messenger RNA.
- Translation – mRNA is translated into a protein with the help of transfer RNA.
What portion of the human genome codes for proteins?
Only about 2% of the human genome codes for proteins (exons). The remaining 98% is non-coding DNA, some of which regulates gene expression.
Define gene, allele, genotype, and phenotype.
Gene = a DNA sequence that codes for a protein. An allele is a variant of a gene.
Genotype = the combination of alleles an individual has (AA, Aa, aa).
Phenotype = the observable trait (e.g., eye color).
What are autosomal recessive and autosomal dominant diseases?
Recessive: Requires two copies of the mutated gene (e.g., aa) — Tay-Sachs, albinism.
Dominant: One copy of the mutated gene causes disease (e.g., Aa) — Huntington’s disease.
What is phenylketonuria (PKU) and how is it treated?
PKU is an autosomal recessive disorder that prevents metabolism of phenylalanine. It causes intellectual disabilities if untreated. Treatment involves a diet low in phenylalanine (essential amino acid).
What are polygenic traits and give an example?
Traits controlled by multiple genes.
E.g. Human height is influenced by at least 423 genes and shows a continuous bell-shaped distribution.
What is epigenetics?
Epigenetics refers to chemical modifications (e.g., DNA methylation) that alter gene expression without changing the DNA sequence. These changes can be caused by environment, diet, trauma, etc.
How do mutations create genetic variation?
Mutations can occur in both coding and non-coding regions. On average, each person has ~60 new mutations. Some mutations are harmful, neutral, or beneficial.
What is Down’s syndrome and how is it detected?
A chromosomal disorder caused by trisomy 21. Detected by amniocentesis (weeks 15–20 of pregnancy). Risk increases with maternal age.
What traits make humans unique?
Bipedalism, language, large brain, precision grip, consciousness, agriculture, cultural evolution, super-cooperation, and non-reproductive sex.
What is meant by humans as “super-cooperators”?
Humans form complex social bonds, remember hundreds of individuals, and work in groups — more sophisticated than any other social species.
What makes human language unique?
Human language is open-ended with infinite possibilities.
Animal communication is typically closed and limited.
What is the role of culture in human evolution?
Culture allows non-genetic transmission of behaviors and knowledge (e.g., language, tools, customs). It interacts with genes to shape phenotypes.
What is the key contribution of Darwin and Wallace?
They proposed natural selection as the mechanism for evolution: differential reproductive success leads to evolution over generations.
What is the structure of a Darwinian argument?
- Variation in a trait exists.
- Some variation is heritable.
- Some traits lead to higher reproductive success.
- Those individuals leave more offspring.
- Over time, the advantageous trait becomes more common.
What is “tree thinking” in evolutionary biology?
Understanding evolutionary relationships based on the recency of a common ancestor, not similarity in appearance. Evolution is a bush, not a ladder.
Did humans evolve from chimpanzees?
No. Humans and chimps share a common ancestor; they are evolutionary cousins, not ancestors and descendants.
What is a major misconception about evolution?
That evolution is progressive and leads to “better” species. Evolution adapts populations to their environments — not toward a hierarchy.
How do humans rank species, and why is it problematic?
We rank based on relatedness, intelligence, pain perception, cuteness, and usefulness.
However, evolutionary theory does not support any species ranking.
What does Stephen Jay Gould say about evolution?
He criticized the idea of evolution as progress and described it as a bush of life shaped by extinction, not a linear ladder of improvement.