molbio Flashcards
(24 cards)
What is the total number of nucleotide base pairs in human DNA?
2.9 billion nucleotide base pairs of DNAs organized in 23 chromosomes
How many chromosomes do diploid organisms have?
46 chromosomes
What is the structure of each chromosome?
Each chromosome is a double helix of DNA
Which chromosome is the largest in humans?
Chromosome 1
Which chromosome is the smallest in humans?
Chromosome 21
Define POLYMORPHISM in genetics.
A difference in DNA sequence found in 1%-2% or more of a given population
What are examples of polymorphisms?
- Blood types in humans
- Color of hair & eyes
- Separation of higher organisms into male & female sexes
- Polymorphisms used for human ID & paternity testing
Define MUTATION in genetics.
A change in the order/sequence of nucleotide in DNA found in <1%-2% of a given population
What can cause mutations?
- Errors in DNA replication
- Exposure to mutagens
- Other factors
What is BALANCED POLYMORPHISM?
Maintained in a population through a balance of positive & negative phenotype
How does SICKLE CELL ANEMIA provide an example of balanced polymorphism?
Abnormal RBCs resulting in resistance to infection by Plasmodium species (malaria)
Define BENIGN POLYMORPHISM.
Does not have any detectable negative effects on an organism’s health/fitness
What are characteristics of benign polymorphisms?
- Typically common in populations
- Do not lead to disease/other adverse phenotypic outcomes
Give examples of benign polymorphisms.
- Blood type (ABO blood group)
- Eye color
- Facial features
- Skin pigmentation
What are the classifications of mutations?
- Gene mutations
- Chromosome mutations
- Genome mutations
What do gene mutations affect?
Affect single genes & are often, but not always, small changes in the DNA sequence
What do chromosome mutations affect?
Affect the structures of entire chromosomes
What are genome mutations?
Changes in the number of chromosomes (aneuploidy)
Define CHROMOSOMAL COMPACTION.
Process by which the long, linear DNA molecules of eukaryotic chromosomes are organized & packaged into highly condensed structures
What affects chromosome behavior?
Chromosome structure & DNA sequences (position effect)
How does chromosome topology affect gene activity?
Highly compacted DNA = less available for RNA transcription
Why are DNA strands condensed into compact chromosomes?
To fit in the cell’s nucleus