Using Molecular Genetic Methods Flashcards
Topic 1
DNA variation and Human Disease
What is a typical cell made up of?
and
where is genetic information stored?
the typical cell is made up of the plasma membrane on the outside, followed by the cytoplasm, and then in the centre, you have the cell nucleus.
Genetic information is stored in the nucleus in the form of chromosomes
How many pairs of chromosomes do humans have?
23
So, how many make up the human genome?
46 chromosomes
One of each of these pairs comes from your mother, and the other comes from your father. And each of these chromosomes contains highly coiled and condensed DNA.
True or False?
TRUE
DNA stands for?
Deoxyribonucleic Acid
What are DNA molecules?
double-stranded helices located in the nucleus
What cells are the only cells without DNA?
Red blood cells
DNA code is centred on the sequence of base pairs along the length of the DNA double helix, and there are four types of bases. What are they?
1) Adenine
2) Thymine
3) Guanine
4) Cytosine
A base on one strand of the double helix strictly pairs up with another base on the other strand. What is the pairing?
A goes with T
G goes with C
How many base pairs do we have in or genome roughly?
6 billion
What is half a set of chromosomes (23) called?
Haploid
What is a full set of chromosomes (46) called?
Diploid
All genetic differences between people come from only what % of difference?
0.1% difference in the base pairs along their DNA
How big is DNA?
DNA is incredibly long
Base pair: 0.34nm
Diploid cell: 2m of DNA
74 trillion metres of DNA in total.
This would stretch from here to the Sun and way beyond
emphasise how massive DNA is, and how much information it contains, and just how spectacular your body is in making it so compact.
is DNA negatively or positively charged?
DNA is negatively charged
allows it to wrap itself around positively charged what?
Histones
it’s the tight coiling of DNA which helps to keep it so compact.
The structure which is formed when DNA molecules wrap themselves around histones is referred to what?
nucleosomes
What is the purpose of nucleosomes?
Nucleosomes are folded and tightly coiled to form fibres that make up the structure of the chromosomes
Each Nucleosomes consists of how many histone proteins?
8
Chromosomes have a very distinctive structure. They have a long Q arm and a shorter P arm held together by a structure called a what?
Centromere
What is a karyotype?
A karyotype is an individual’s complete set of chromosomes
If there is the presence of a Y chromosome in the karyotype this tells us this karyotype is what gender?
MALE
The X and Y chromosomes are referred to as?
Sex chromosomes
all of the other 22 pairs of chromosomes are referred to as
autosomal chromosomes
What is a gene?
• the basic unit of heredity
• short sections of DNA that contain
instructions to make proteins
• each person has two copies
What defines the structure of a gene and confer certain functional properties?
Nucleotide sequences
For instance, the promoter sequence in the 5’ flanking region of the gene binds what?
Transcription factors
And is vital in what?
is vital in the initiation of gene expression
A typical sequence at a promoter region includes repeats of?
T-A-T-A, thymine and adenine, often nicknamed a TATA box.
Other regions in the 5’ flanking region are also important in regulating the rate of gene expression.
A mutation is what?
a permanent change in the nucleotide sequence of the genome of an organism.
What are 3 common causes of DNA mutations?
- unrepaired damage caused by radiation or chemical mutagens
- errors in replication or recombination
- transposons (jumping genes)
Explain in more detail the mutations caused by unrepaired damage to DNA?
Mutations often arise from damage caused by radiation or chemical mutagens.
Long-term exposure to UV rays can damage DNA leading to skin cancer.
UV rays break hydrogen bonds between the two strands.
Covalent bonds can form between adjacent pyrimidine nucleotides.
Can the repair mechanism correct some errors of this mutation?
Repair mechanisms can correct some errors, but uncorrected errors lead to changes in the DNA code being passed on.
In cancer, DNA damage can lead to abnormal cells undergoing what?
mitosis at an alarming rate, and becoming immortal - the cells do not die as they should.
Explain in further detail the errors in DNA replication or recombination?
the swapping of DNA between chromosomes during egg or sperm production
Where there are large changes to genetic material, there is lots of room for error.
If the cell’s repair mechanisms don’t correct the erroneous sequences, a mutation occurs.
Explain in detail transposons mutations?
Transposons were discovered by Barbara McClintock in the 1940s.
She found mobile genetic elements in maize could insert themselves randomly into the genome.
McClintock noticed insertions, deletions, and translocations.
Cells contributing to each kernel had different mutations, causing neighbouring kernels to have characteristic colours.
What % of the maize genome is made up of transposons? ad are transposons present in human?
85% and yes
What are transposons also called?
Jumping genes
Mutations can occur in germline or somatic cells. Germline mutations (sperm or egg cells) occur in what type of cell?
Haploid cells
these mutations may be transmitted to the next generation producing an individual with the mutation. True or false?
TRUE
Somatic mutations are present where?
Diploid cells (all other cell types)
Can a mutation in somatic cells be carried on to the next generation?
NO
but it may affect the person carrying it
Mutations can be good, which we call advantageous, or they can be bad, which we call?
Deleterious
So a mutation remains within the population if it increases the reproductive fitness of an organism, and increases the chances of passing on their genes, and it disappears if it leads to disease states or early death
true or false?
TRUE
A mutated form of a gene that appears and remains in a population over a period of time becomes a stable new variant of the gene, known as a what?
Allele
What are the 2 types of chromosomal mutations?
1) Large scale mutations
such as a change in the whole chromosome number or a modification to a chunk of a chromosome
2) Small scale mutations on a nucleotide level
There are several types of chromosomal mutation. Some involve a change in the number of chromosomes, which we call what?
aneuploidy (change in number)
Other mutations involve changes to chromosome structure, which may involve what?
duplication, deletion, translocation, or inversions
What is meiosis?
Meiosis is the process in which haploid cells are formed from somatic diploid cells.
What is the process of meiosis? 6 steps
- DNA replication of the genetic material
- Homologous chromosomes of similar type
• Homologous chromosomes break and swap over, mixing the genetic material –
genetic recombination
- Meiosis I - genetic information is halved
- Meiosis 2 - genetic information is halved again
The result is haploid egg or sperm cells, 1⁄2 the chromosomes of body cells
Sperm and egg meet - formation of diploid zygote
What is aneuploidy?
Aneuploidy - a cell or organism contains a different number of chromosomes characteristic of its species
When does it occur?
Aneuploidy occurs during a malfunction in meiosis when the chromosomes do not separate properly.
example, instead of a haploid cell having one copy of the chromosome it has zero or two copies.
What is the most well known case of aneuploidy?
Down’s syndrome
What is trisomy 21
It involves the gain of a single extra chromosome, chromosome 21, which exists in three copies in all the person cells. So it’s called trisomy 21.
How is trisomy 21 characterised?
it’s characterised by a low IQ, folds over the eyes, short and broad hands, and below average height.
Klinefelter syndrome is another case of aneuploidy and involves the gain of what?
Giving rise to the karyotype?
Gain of an X chromosome
the female sex chromosome, and gives rise to the karyotype XXY
What is the number which Klinefelter’s occurs in, in the population?
1 in every 1,000 live births
How is Klinefelter characterised?
characterised by underdeveloped testes, some breast development, taller than average height and low IQ.
What is Turner’s syndrome?
Turner’s Syndrome involves loss of a single sex chromosome and inheritance of a single X
We refer to a loss of one of the pairs of chromosomes as?
Monosomy
Turner’s occurs in 1 in every?
10,000 female live births
99% die before birth
What are the symptoms for Turner’s syndrome?
The symptoms are shorter than average height, web-like necks, poorly developed breasts, immature internal organs, and reduced ability to interpret spatial relationships.
Structural mutations tend to occur due to what?
errors during meiosis
- they begin with one or more breaks in the chromosome.
- Wherever the break occurs, the broken ends remain exposed and vulnerable to degradation.
- Broken ends of chromosomes are sticky and can adhere to other broken ends.
Chromosome deletions involve the loss of what?
Genetic material.
Centromeres are not required for proper division of genetic material during mitosis and meiosis.
True or false?
FALSE
Centromeres are required for proper division of genetic material during mitosis and meiosis.
Removal of the centromeres by deletion will lead to what?
An aborted foetus
any chromosomal deletions present in the living individual will not include the centromere, but can involve almost any other part of the chromosome. True or false?
TRUE
An example of a deletion is Cri-du-chat syndrome, which is caused by what?
caused by deletion in the p arm of chromosome 5.
The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten.
This occurs due to problems with the larynx and nervous system.
Later in life, sufferers exhibit cognitive and behavioural problems.
Another deletion mutation causes Prader-Willi syndrome. This solution is in the what part?
q arm, chromosome 15