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Questions and Answers
What is largely responsible for an organism's phenotype?
What is largely responsible for an organism's phenotype?
- Genotype (correct)
- Chromosomal abnormalities
- Environmental factors
- Gene mutations
How many total chromosomes do humans have?
How many total chromosomes do humans have?
- 22
- 48
- 44
- 46 (correct)
Which of the following best describes mutations?
Which of the following best describes mutations?
- Only harmful changes in DNA
- Only inherited changes from parents
- Random sequences that have no impact
- Changes in the DNA sequence that may or may not affect an individual (correct)
Which chromosomes contribute to a human's sex chromosomes?
Which chromosomes contribute to a human's sex chromosomes?
What type of mutation involves the whole genome?
What type of mutation involves the whole genome?
What is the karyotype of a normal female?
What is the karyotype of a normal female?
What is the role of chromatin proteins?
What is the role of chromatin proteins?
What characterizes balanced translocations?
What characterizes balanced translocations?
Which types of chromosomes are present in human beings?
Which types of chromosomes are present in human beings?
What is the term for the genetic information carried on chromosomes?
What is the term for the genetic information carried on chromosomes?
What is the primary difference between genome, chromosomal, and gene mutations?
What is the primary difference between genome, chromosomal, and gene mutations?
During which phase of the cell cycle would one analyze chromosome structure via FISH?
During which phase of the cell cycle would one analyze chromosome structure via FISH?
What distinguishes a balanced translocation from an unbalanced translocation?
What distinguishes a balanced translocation from an unbalanced translocation?
What is the significance of telomeres in chromosomes?
What is the significance of telomeres in chromosomes?
Which of the following best describes mutations in the context of inheritance?
Which of the following best describes mutations in the context of inheritance?
What is the role of the p arm and q arm in a chromosome?
What is the role of the p arm and q arm in a chromosome?
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Study Notes
Changes in the DNA Sequence
- Changes to the DNA sequence are referred to as mutations or polymorphisms
- These mutations can potentially impact the individual and their offspring, but they don't always.
The Human Genome
- The human genome refers to all the genes present in a single individual
- Consists of 2.9 billion nucleotide base pairs of DNA organized into 23 chromosomes
- The order, or sequence, of nucleotides in the DNA helix carries genetic information (genotype)
- The genotype determines the organism's traits (phenotype)
Humans are Diploid Organisms
- Humans inherit a haploid set of genes from each parent
- Each parent contributes 23 pairs of chromosomes for a total of 46 chromosomes in the human body
- These 46 chromosomes consist of 22 autosomes (chromosome 1 to 22) and 1 sex chromosome (Chromosome X or Y)
Changes in the DNA Sequence
- Changes in the DNA sequence are called mutations or polymorphisms.
- Mutations or polymorphisms may or may not affect the individual and its progeny.
Human Genome
- The human genome refers to all the genes found in a single individual.
- The human genome consists of 2.9 billion nucleotide base pairs of DNA organized into twenty-three (23) chromosomes.
- Genetic information is carried on the chromosomes in the form of the order, or sequence, of nucleotides in the DNA helix (genotype).
- The genotype is responsible for the organism’s phenotype (traits).
Human Chromosomes
- Humans are diploid organisms with a total of 46 chromosomes.
- Humans inherit a haploid set of their genes from each parent.
- We get 23 pairs of chromosomes from each parent.
- These chromosomes are organized into 22 autosomes (chromosome 1 to 22) and 1 sex chromosome (Chromosome X or Y).
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