Genetics- Cellular Control Flashcards
What is a gene?
A short section of DNA that codes for a polypeptide
What is a mutation?
An error in a gene caused by a change in base sequence of DNA of an organism
What are the features of mutations?
Are sudden, significant and random
What do mutations cause?
An unpredictable form of variation
Why might a mutation NOT be significant?
- Genes are only a small part of DNA
- DNA is degenerate, so a polypeptide can be coded for more than one gene
Why do mutations cause changes in phenotype?
Mutation creates a change in primary sequence (base of amino acids). This causes different bonds to break and be made, changing the specific tertiary shape of proteins. This can cause genes to stop working.
What is a somatic mutation?
A mutation in non-reproductive cells that cannot be inherited
What is a germ-line mutation?
A mutation in an organism’s gamete which can be inherited by offspring
What is the process of antibiotic resistance?
- There is a spontaneous mutation in a growing population in a bacterial population
- The population is exposed to antibiotics
- The resistant bacteria survives and reproduces to generate a population of antibiotic resistant bacteria
What are the causes of mutations?
-Natural and spontaneous during meiosis (multicellular) and mitosis (unicellular)
-Transcription mistake
-Produced by mutagens, such as:
Viruses, Chemicals and Radiation
How can chemicals cause mutations?
Some chemicals are deaminating agents, which can turn cytosine into uracil, changing the base sequence. Also have alkylating agents that add methyl or ethyl groups, resulting in incorrect base pairing during replication
How do viruses cause mutations?
Viruses insert their own genetic material (RNA,DNA) into the host cell, overriding DNA replication
How does radiation cause mutations?
Effects depend on the wavelength and dose of radiation received. Ionising radiation like X-Ray can break one or both DNA strands
What are the different types of transcriptional errors?
- Insertion (Addition) or Deletion of a nucleotide
- Substitution of a nucleotide
- Inversion of two nucleotides
- Insertion creates a frameshift
Transcriptional error example
AGT CCC AAA CCA original AGT ACC CAA ACC A insertion AGC CCA AAC CA deletion AGT TCC AAA CCA substitution AGC TCC AAA CCA inversion
What causes sickle cell anaemia?
A base substitution, where A has been replaced by T. So CAT is replaced by CTT. This means that during translation, the mRNA causes valine to be added to the polypeptide instead of glutamate. There haemoglobin S is formed which is much less soluble and hence forms sticky fibres which distort the erythrocyte
What are the types of chromosome mutation?
- Deletion, where bits of chromosome break off and are lost
- Duplication (section of chromosome gets copied)
- Translocation, where a section of DNA breaks off and joins another non-homologous chromosome
- Inversion, where a section of chromosome breaks off, is reversed and then joins back onto the chromosome
What is Downes Syndrome?
A genetic disorder caused by an extra chromosome 21.
What causes Downes Syndrome?
Caused by non-disjunction, which means there is an uneven distribution of parental chromosomes at meiosis. This leads to a trisomic cell with 3 chromosomes 21, instead of 2.
What are the characteristics of Downes Syndrome?
- Broad forehead
- Short neck
- Fold in eyelid
- Spots in iris
- Short nose
- Protruding tongue