The probability that a person who has the genotype will manifest the character
Different members of the family show different features of the syndrome, due to other genes, environmental factors and chance
The tendency of some conditions to become more severe or have an earlier onset in successive generations
7. Mitochondrial bottleneck
Inheritance of a trait or gene directly from the mother
A cell can have some mitochondria that have a mutation in the mtDNA and some that do not
A stage in which cells contain very few mitochondria, which can result in variation of the number of abnormal mitochondria between mother and offspring
In some cases of mitochondrial disease, every mitochondrial genome carries the causative mutation
8. Chiasmata
The point at which paired chromosomes remain in contact and cross over to exchange genetic material
The organelle from which spindles form
9. An individual who is the result of fusion of two zygotes to form a single embryo
Variable expression
Chimera
Penetrance
Mosaic
10. 3' polyadenylation
The enzyme polyA polymerase adds adenylate residues to the 3’ end of a cleaved transcript, this is known as a polyA tail and is thought to aid in transport, stabilisation and enhance recognition
Shortly after the initiation of synthesis of a primary RNA transcript, a methylated nucleotide is linked by phosphodiester bond to the first 5’ nucleotide; this nucleotide protects the transc-ipt from exonuclease attack
11. Enhancer
TATA box
A cluster of cis-acting short sequence elements that can enhance the transcriptional activity of a specific gene, these sequences can have very variable distances from the gene they work on. They bind to activator proteins and other transcription app
Promotor
12. What is a dominant disease
When a phenotype manifests in a heterozygous person
When a phenotype does not manifest in a heterozygous person
13. Chromosomes are stained with a fluorescent dye that binds to AT rich regions, such as the DAPI stain or quinacrine, and then viewed under fluorescent microscopes
Q banding
T banding
G banding
R banding
C banding
14. What does diploid mean
Each round of cell division comprising the M phase and interphase (G1, S, G2)
Having two copies of each type of chromosome; the normal constitution of most human somatic cells
Describing a cell which has only a single copy of each chromosome
15. Addition of carbodydrates, lipid groups and post translational cleavage
Post translational processing
Flanking untranslated regions
Ribosome subunits
Splice sites 0
16. TATA box, GC box and GAAT box are elements often found within
Promotors
Silencers
17. Branch site
The highly conserved dinucleotides at the end of introns, which are crucial for splicing
A conserved intronic sequence which is typically located no more than 40 nucleotides upstream of an introns terminal AG
Sequences that are immediately adjacent to GT and AG exon limits, which are highly conserved and contribute to marking the limits of an intron
18. Carries genetic information from DNA to the protein synthesis machinery, often described as messenger RNA
Coding RNA
Non-coding RNA
19. LTR retrotransposon
A group of genetic elements found in large numbers in human genome, it encodes a reverse transcriptase and other proteins
Retrotransposons which have direct long terminal repeats ranging from 100bp – 5kb
Short DNA sequences
20. Regions present on eurkaryotic mRNA which flank the central segment which is to be transcribed; these regions assist in binding and stabilising the mRNA on the ribosomes and promote efficient translation
