What is the definition of a gene?
A heritable factor that consists of a specific length of DNA and influences a specific characteristic
What is the definition of an allele?
One specific form of a gene, differing from other alleles by one or a few bases only and occupying the same gene locus as other alleles of the same gene. They are formed by mutations in the nucleotide code.
What is the definition of a locus?
The position of a gene on a particular chromosome
What is a gene mutation?
A permanent change in the base sequence of DNA
What is the genome?
The whole of the genetic information of an organism.
This includes all genes as well as non-coding DNA sequences.
What are the causes of sickle cell anaemia? (3)
Sickle cell anaemia results from a change to the 6th codon for the beta chain of haemoglobin
What are the consequences of sickle cell anaemia? (5)
What was the human genome project?
The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains. It was estimated that humans have between 21 000 – 23 000 genes
• The Human Genome Project showed that most of the genome does not code for proteins (originally labelled “junk DNA”)
• Some of these regions consist of areas that can affect gene expression or are highly repetitive sequences called satellite DNA
What are homologous chromosomes?
A pair of chromosomes (one from each parent) that are the same length and contain the same genes in the same location
How is DNA organized in eukaryotes?
The genetic material of eukaryotic cells consist of multiple linear molecules of DNA that are associated with histone proteins. This results in a greatly compacted structure, allowing for more efficient storage
(DNA is complexed with eight histone proteins to form a complex called a nucleosome, they are linked by an
an additional histone protein to form a string of chromatosomes which coil to form a solenoid structure.
These fibres then form loops, which are compressed and folded around a protein scaffold to form chromatin)
Where is DNA located in prokaryotes? (2)
What are plasmids? (4)
What is a karyogram?
A diagram or photograph of the chromosomes present in a nucleus arranged in homologous pairs of descending length.
What are autosomes?
Sex is determined by sex chromosomes but autosomes are chromosomes that do not determine sex.
What is a karyotype?
A property of a cell/ the number and appearance of different chromosomes present in a cell
Why is karyotyping used prenatally? (2)
What is Down Syndrome?
What is the importance of genome size?
Genome size can vary greatly between organisms and is not a valid indicator of genetic complexity. It simply refers to the total length of DNA in an organism
What is meiosis?
Meiosis is a reduction division of one diploid nucleus to form four haploid nuclei. Meiosis produces gametes.
What is autoradiography?
Outline the stages of Meiosis I
P-I: Chromosomes condense, nuclear membrane dissolves, homologous chromosomes form bivalents, crossing over occurs
M-I: Spindle fibres from opposing centrosomes connect to bivalents (at centromeres) and align them along the middle of the cell
A-I: Spindle fibres contract and split the bivalent, homologous chromosomes move to opposite poles of the cell
T-I: Chromosomes decondense, nuclear membrane may reform, cell divides (cytokinesis) to form two haploid daughter cells
Outline the stages of Meiosis II
P-II: Chromosomes condense, nuclear membrane dissolves, centrosomes move to opposite poles (perpendicular to before)
M-II: Spindle fibres from opposing centrosomes attach to chromosomes (at centromere) and align them along the cell equator
A-II: Spindle fibres contract and separate the sister chromatids, chromatids (now called chromosomes) move to opposite poles
T-II: Chromosomes decondense, nuclear membrane reforms, cells divide (cytokinesis) to form four haploid daughter cells
What is crossing over? (3)
What is random orientation? (2)