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Genetics flashcards

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Reproduction and meiosis

Give two advantages of asexual reproduction. Triple only
No need to find a mate, and a rapid reproductive cycle.
What is the main disadvantage of asexual reproduction? Triple only
No variation in the population, so all individuals are affected in the same way by a disease or environmental change.
What is the main advantage of sexual reproduction? Triple only
Variation in the population, so some individuals are likely to survive a change or a disease.
What is a disadvantage of sexual reproduction? Triple only
The requirement to find a mate.
What is the role of meiotic cell division?
To produce genetically different haploid gametes.
How many daughter cells does meiosis produce, and how many chromosomes does each have?
Four daughter cells, each with half the number of chromosomes of the parent cell.
How many chromosomes are in a human body cell and a human gamete?
46 in a body cell and 23 in a gamete.
Are the gametes made by meiosis identical to each other?
No. They are genetically different.

DNA and the genome

DNA is a polymer made up of what units?
Nucleotides.
What are the parts of a nucleotide?
A sugar and a phosphate group, with one of four different bases attached to the sugar.
What shape is a DNA molecule?
Two strands coiled to form a double helix.
What joins the two strands of DNA together?
Complementary base pairs joined by weak hydrogen bonds.
Which bases pair together in DNA?
A with T, and C with G.
Define the genome.
The entire DNA of an organism.
Define a gene.
A section of a DNA molecule that codes for a specific protein.
Why is detergent used when extracting DNA from fruit?
It breaks down the cell membranes to release the DNA.
Why is ice-cold ethanol added when extracting DNA?
DNA is not soluble in it, so it comes out of solution as white, stringy strands.
Why is the mashed fruit mixture filtered?
To remove solid pieces of cell, leaving the DNA in the filtrate.

Protein synthesis and gene variants

What decides the order of amino acids in a protein? Triple onlyHigher tier
The order of bases in a section of DNA.
How does a protein get its specific shape? Triple onlyHigher tier
The chain of amino acids folds. The way it folds depends on the order of amino acids.
Name the two stages of protein synthesis. Triple onlyHigher tier
Transcription and translation.
What does RNA polymerase bind to? Triple onlyHigher tier
Non-coding DNA located in front of a gene.
What does RNA polymerase produce? Triple onlyHigher tier
A complementary mRNA strand from the coding DNA of the gene.
What is a codon? Triple onlyHigher tier
A triplet of bases in mRNA that codes for a specific amino acid.
What is the role of tRNA? Triple onlyHigher tier
It transfers amino acids to the ribosome.
What happens to amino acids at the ribosome? Triple onlyHigher tier
They are linked together to form a polypeptide.
How can a variant in non-coding DNA affect phenotype? Triple onlyHigher tier
It can change the binding of RNA polymerase, altering the quantity of protein produced.
How can a variant in coding DNA affect phenotype? Triple onlyHigher tier
It can alter the sequence of amino acids, and so the activity of the protein produced.

Inheritance

Who was Gregor Mendel and what did he do? Triple only
A monk who bred pea plants and counted offspring over generations, discovering the basis of genetics.
Why was inheritance difficult to understand before Mendel's work was explained? Triple only
Genes, chromosomes and DNA were not known, so there was no mechanism to explain it.
Why do individuals have different inherited characteristics?
Because they inherit different combinations of alleles.
Define a chromosome.
A long molecule of DNA in the nucleus that carries many genes.
Define an allele.
A different version of the same gene.
Dominant allele or recessive allele: which is expressed when only one copy is present?
The dominant allele.
Homozygous or heterozygous: which has two different alleles of a gene?
Heterozygous. Homozygous means two identical alleles.
What is the difference between genotype and phenotype?
Genotype is the alleles an organism has. Phenotype is the characteristic that is expressed.
What are a gamete and a zygote?
A gamete is a sex cell with half the chromosomes. A zygote is the cell formed when two gametes fuse.
What ratio of phenotypes is expected from Tt × Tt (T dominant)?
3 showing the dominant characteristic : 1 showing the recessive.
Two parents without a characteristic have a child with it. What does this show?
The characteristic is recessive and both parents are carriers.
Which sex chromosomes do human males and females have?
Males XY, females XX.
What is the probability of a baby being male or female?
50% (a 1 : 1 ratio). The sperm decides, as it carries an X or a Y.
How can the outcome of a cross be expressed?
As a ratio, a probability or a percentage.
Two carriers (Ff) have a child. What is the probability that it is ff?
1/4, 0.25 or 25%.
What is codominance? Triple only
Both alleles are expressed in the phenotype of a heterozygous organism, such as IA and IB giving blood group AB.
What are multiple alleles? Give the ABO alleles. Triple only
More than two alleles of a gene. The ABO alleles are IA, IB and IO.
Which genotypes give blood group A? Triple only
IA IA or IA IO.
Why are sex-linked disorders more common in males? Triple onlyHigher tier
Males have only one X, so one recessive allele on it causes the disorder. Females need two copies.
A carrier mother has children with an unaffected father. What is the chance a son has the disorder? Triple onlyHigher tier
50%. No daughters are affected, but half are carriers.

Variation, mutations and the Human Genome Project

Do most features depend on one gene or many?
Most phenotypic features are the result of multiple genes rather than single gene inheritance.
What is genetic variation?
Different characteristics as a result of mutation and sexual reproduction.
What is environmental variation?
Different characteristics caused by an organism's environment (acquired characteristics).
Continuous or discontinuous variation: which has distinct categories?
Discontinuous. Continuous variation gives a range of values, such as height.
How do you calculate an arithmetic mean?
Add all the values and divide by the number of values.
What was the Human Genome Project?
A project that mapped the human genome, identifying the sequence of bases in human DNA.
Give two medical applications of the Human Genome Project.
Finding genes linked to inherited disorders for testing and risk prediction, and developing treatments matched to genes.
How does extensive genetic variation in a population arise?
Through mutations.
What effects do mutations have on the phenotype?
Most have no effect, some have a small effect, and rarely a single mutation significantly affects the phenotype.