Samenvatting
Summary Genetics
- Vak
- Genetics
- Instelling
- Rijksuniversiteit Groningen (RuG)
This summary represents the course Genetics that given at the university of Groningen. The summary is written in English.
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Genetics samenvatting8 oktober 2019
H1 Genes, Chromosomes and Heredity
Case
• Healthy newly born boy, problems with breast feeding and lethargy from day 7 after birth.
Day 12 gray skin and drunk less milk. Day 13 passed away
• Mother used codeine 30 mg and paracetamol 500 mg because of episiotomy pain: initially 2
tablets of codeine every 12 hours, from day 2,1 tablet every 12 hours because of
drowsiness, sleepiness and constipation
Codeine is a painkiller and is also a cough suppressor (cough drinks).
Codeine has side effects: drowsiness, nausea, constipation, respiratory inhibition when using too
high doses in children.
Blood concentration of neonate morphine 70 ng / ml (usually in mothers using codeine: 0.2-2 ng /
ml) Concentration in milk 87 ng / ml (normal: 1.9- 20.5 ng / ml at codeine 60 mg every 6 hours)
These concentration are abnormal high. Codeine metabolism
12-04-2019 | 9
This is the metabolism of codeine. You see a chemical
structure of codeine above and you see the structure of
morphine down. Codeine is by itself not active but is
activated by a CYP2D6 enzyme. When this codeine is
active it will be metabolized in morphine. The morphine is
the actor as a painkiller. In the graph you see 5 different
stages where you can see the CYP2D6 and on the most
left side you see the poor metabolism with a low level of
enzyme activity. Then there is the extensive metabolizer
and on the right side there is the ultra rapid metabolizes.
If you have a rapid metabolism you convert quickly
morphine from Codeine -> a lot of morphine is formed
even with a little dose of Codeine.
Codeine metabolism can be poor, intermediate,
extensive and ultrarapid where the activity goes up.
Breast-feeding and codeine is not a good combination.
Conclusion:
Mother was ultra-rapid metabolism for CYP2D6. Did
contain high levels of CTP2D6 therefore she converts
codeine to morphine in a very high rate. She has high
rates of morphine in the breast milk and the baby gets
this also in the body. It is important to look at the
background.
Do not use this medicine codeine: For children under 12 years old. If you know that you are
converting codeine very quickly to morphine. If you are breastfeeding. Breastfeeding Codeine and
the degradation products of this substance are present in breast milk. Do not take Natterman
Bronchicum Extra Strong while you are breastfeeding. Codeine and morphine are found in breast
milk.
Pagina 1
,Genetics (γένεσις) -> greek
Genetics comes from a greek word and means origin. Genesis does also means
origin. The origin of everything is in your genes. The father of genetics is Johann
Mendel -> he was a monk and lived in the monastery. The knowledge of cells,
DNA etc. wasn’t even there. Today we know a lot more.
Antisense and RNA interference (RNAi) -> we can shut down genes with even
synthetically RNA but or RNA that are present in the cell -> you make double
stranded RNA -> is recognized by a complex and will be degraded. The RNA is no
longer active.
Patisiran siRNA
•Treatment of polyneuropathy in people with hereditary
transthyretin-mediated amyloidosis
•Gene silencing by interfering with the production of an abnormal
form of transthyretin.
CRISPR Cas 9 is about genome editing -> is changing the
genome at a very precise position. We can recognize a single
sequence in our genome very specifically based on this guide
RNA. After recognition this guide RNA -> is recognition by Car
9 the DNA will be cut and repaired but this will create an
insertion or a deletion. There will be a stop codon and the
protein is no longer produced. This technique is used by
babies and this is used to shut down proteins/genes that code
for a bad effect.
The use of genetic profiles can show you a lot of stuff about you
body and when this company has your genetic profiles this is put in a database. Those database
give them access of your genetic information. When there is a criminal situation there can be
looked in the database for a match.
There is a duplicated chromosomes in the nucleus and it is not a chromosome.
So the X form in this picture is a duplicated chromosome!!
Genomics = studies the structure, function and evolution of genes and
genomes.
Proteomics = Identifies a set of proteins present in cells under a given set of
conditions. Studies their functions and interactions.
Bioinformatics = Uses hardware and software for processing nucleotide and
protein data (use computers).
DNA is a double helix and consist of sugars (deoxyribose),
nucleotides and a phosphate group. In DNA there are also
complementary base pair (thymine-adenine and cytosine-
guanine)
A mutation can make a huge different -> healthy/unhealthy
(disease) etc. For example by B-globin. Normal -> Thr-
Pro-Glu-Glu but when there is a mutation it can be for
example Thr-Pro-Val-Glu and when you have these amino acids, DNA or RNA you will
have a disease -> different forming / different shape. The good form can pass the
blood stream and the bad form can’t pass the blood stream easy.
Pagina 2
, Illustrates all or chromosomes and different
diseases that has been tested and by which
chromosomes the disease is.
Timeline of Genetics
12-04-2019 | 34
This is the timeline of Genetics. It is started in 1860.
In that time people thought that the sperm contained
a small embryo (small human).
9
• Human genome: 3.2 10 base pair
• 1 gene = (ongeveer) 3,000 base pair
• <2% of genome codes for protein
• Rest is “junk DNA”
• 20,000-25,000 genes, 250,000 proteins
Differences: Between people: 0,1% With monkeys 1,24% with worms 40% with bananas 50%
9
The difference between different people is 0,1%. There are 3.2 10 base pairs. The difference
0,1% is 3.2 million so there is no human genome. The human genomes aren’t the same there are
a lot of human genomes. We look for 50% like a banana -> but we don’t look like them but we all
need some of the same genomes we all need to grow etc.
› Society is faced with a host of sensitive genetics-related issues:
• Prenatal testing
• Ownership of genes
• Access to/safety of gene therapy
• Engineering the Perfect Baby
Pagina 3
, H3 Mendelian genetics -> Mendelian (met wettern van Mendel).
Heredity traits (eigenschappen) are under control of genes
(Mendel called them factors)
Genotype = a description of the genes an organism contains ->
genes
Phenotype = is the characteristics that can be observed in an
organism. How an individual develops what traits are visible and
we try the link those to the genotype. Not all genes are visualized.
The phenotype is determined by interaction between the genotype and the environment. The gene
is not always expressed in the phenotype (depends on the environment -> food, age etc.)
The pea (erwt) plants shows a certain heritage. In the flower of these plants there are stamen
(meeldraad) and pistels (stamper). You can mix two plants on purpose. Pistels are needed to
fertilize the Stamen. You can by yourself fertilize the stamen and mix different plants with each
other on purpose. He crossed only two plants with one trait ->
he makes it simple. Because there are many different traits.
French was the international language -> lots of words have
a origin of the french language.
Pisum sativum easily gives large numbers of seeds self
fertilizes
By self-fertilization true breeding strains were obtained
Each strain had a distinct trait
Mendel selected seven pairs of traits to study in breeding
experiments
Monohybrid crosses
true breeding -> involving a single pair of contrasting traits.
P1 generation: Original parents genes
F1 generation: Offspring (nakomelingen) (self-fertilizing -> all
individuals of the same generation mix with each other).
F2 generation: Offspring of F1 generation crossed (self-fertilizing)
He looked while his experiment at the color of the flower and at the side of the plants. He found
that if he mix the plants that were yellow or green -> most plants were yellow. The yellow color is
dominant over the green. The traits are all controlled by genes. These alternative functions of the
same genes is called alleles. So one factor is color and there are two alleles (yellow and green). In
humans there is often one allele/chromosome from your father and one allele/chromosome from
your mother. This is a non duplicated chromosome. These two chromosomes is called a pair and
the chromosomes are given the same number. The
chromosomes are called homologous pair of
chromosomes.
The principle of segregation
- These traits are controlled by genes
- Each gene exists in alternative forms (alleles)
- For each trait an organism inherits two alleles one from
each parent. The alleles are located on the
chromosomes. These two
chromosomes is called a pair.
- Based on monohybrid crosses (one trait. flower color with two alleles.)
- Reciprocal crosses give same result
In this situation there is looked to the form of the seeds (smooth/wrinkled)
In the P generation / Parental line (Pure lines) the two alleles are different
one smooth and one wrinkled but in the F1 generation all the cells are
smooth. The whole F1 resembles one of the parents (uniformity law).
Pagina 4
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