natgillin/translations-raw huggingface dataset:
- udtrykker Det Europæiske Råd betænkelighed ved, at der ikke er sket fremskridt med hensyn til EF-patentet og brugsmodellen og anmoder Rådet og Kommissionen om at fremskynde arbejdet i overensstemmelse med konklusionerne fra Lissabon og Feira og i fuld overensstemmelse med den eksisterende lovgivningsramme;
– the European Council expresses its concern at the lack of progress on the Community patent and the utility model and urges the Council and the Commission to speed up work in accordance with the Lisbon and Feira conclusions and in full compliance with the existing legislative framework;
- vil Kommissionen sammen med Rådet undersøge de foranstaltninger, der er nødvendige for at udnytte potentialet i bioteknologien fuldt ud og styrke den europæiske bioteknologisektors konkurrenceevne for at holde trit med de førende konkurrenter, samtidig med at det sikres, at denne udvikling sker på en måde, som er sund og sikker for forbrugerne og miljøet og i overensstemmelse med de fælles grundlæggende værdier og etiske principper.”
– the Commission, together with the Council, will examine measures required to utilise the full potential of biotechnology and strengthen the European biotechnology sector’s competitiveness in order to match leading competitors while ensuring that those developments occur in a manner which is healthy and safe for consumers and the environment, and consistent with common fundamental values and ethical principles.’
I Europa-Parlamentets og Rådets afgørelse om det IV. rammeprogram for forskning (2002-2006), som handler om realiseringen af det europæiske forskningsrum, hedder det: "Videnskabens store udfordring her på tærsklen til det 21. århundrede er at få de fremskridt, der er gjort med at analysere det menneskelige og andre levende væsners genomer, til at give konkret udbytte: vi er på vej ind i det, der kaldes ”post-genom-æraen”, med forventninger om virkninger for folkesundheden og for de bioteknologiske industriers konkurrenceevne.”
The proposal for a decision of the European Parliament and of the Council on the sixth research framework programme (covering the years from 2002 to 2006), under which the European research area is to be established, states that: ‘At the dawn of the 21 st century, the immediate challenge facing science is to make use of the advances achieved in the analysis of the human genome and other living organisms, heralding the advent of the post-genomic era with all its spin-offs in terms of public health and the competitiveness of the biotechnology industries’.
Det Midlertidige Udvalgs mandat
Brief of the temporary committee
Den 13. december 2000 vedtog Europa-Parlamentet at nedsætte et midlertidigt udvalg for en periode af ét år om humangenetik og andre nye teknologier inden for moderne lægevidenskab Vedr. humangenetikkens historiske kronologi og de europæiske institutioners holdninger, henvises til bilag IV og V. .
On 13 December 2000 the EP decided to set up a temporary committee on human genetics and other new technologies in modern medicine, which was to remain in existence for one year For chronologies listing developments in the field of human genetics and statements of views by the European institutions, see Annexes IV and V. .
Dette udvalgs mandat er som følger Beslutning B5-0898/2000 (Europa-Parlamentets beslutning om nedsættelse af et Midlertidigt Udvalg om Humangenetik og de Andre Nye Teknologier inden for Moderne Lægevidenskab). :
According to the brief conferred on it, the committee has the tasks of Resolution B5-0898/2000 (European Parliament decision on setting up a temporary committee on human genetics and other new technologies in modern medicine). :
- at udarbejde en så udtømmende oversigt som muligt over den nye og potentielle udvikling vedrørende humangenetik og anvendelsen heraf, således at Parlamentet kan få en detaljeret analyse af denne udvikling og påtage sig sit politiske ansvar;
‘ - compiling as complete an inventory as possible of new and potential developments in human genetics and of their uses, so as to provide Parliament with a detailed analysis of such developments necessary to enable it to assume its political responsibilities;
Fra menneskene har sået marker og opdrættet kvæg har det været klart, at ethvert frø eller befrugtet æg indeholdt en ”plan eller et skjult mønster”, der førte til udviklingen af organismen.
Ever since humans have sown crops or reared animals it has been obvious that every fertilised seed or egg must contain a ‘hidden plan or blueprint’ for the organism’s development.
Hvordan er denne plan, hvordan præsenterer den sig, og hvilken slags instruktion eller information indeholder den?
What is the nature of this plan, what form does it take, and what kind of instructions or information does it contain?
Fra ca. 1860 havde en munk ved navn Gregor Mendel udført forsøg på ærteplanter ved at krydse forskellige plantetyper.
From about 1860 a monk called Gregor Mendel experimented with the characters of garden pea plants by crossing plants with different characters.
Han havde nøje observeret de ærteplanter, der blev tilvejebragt ved krydsning, og opdagede, at karakterer fra forældreplanterne nedarvedes efter specifikke mønstre.
He carefully examined the characters produced by cross-fertilisation and discovered that the plants thus bred inherited characters from the parent plants according to specific patterns.
Mendel mente, at diskrete “arveenheder” var ansvarlige for de karakterer, han havde studeret, og på grundlag af en mere nøje undersøgelse af arveskemaerne hos planterne postulerede han, at enhver karakter skyldes to arveenheder, og at enhver af disse to enheder kom fra en af de to forældreplanter.
Mendel suggested that the characters which he had studied had been brought about by discrete ‘units of heredity’ and, after examining the heredity patterns in more detail, put forward the theory that each character resulted from two units of heredity originating from the two parent plants.
I dag kaldes disse arveenheder for gener .
Today these units of heredity are called genes .
DNA er den vigtigste substans, som kromosomerne og dermed generne er lavet af.
DNA is the principal constituent element of chromosomes and hence genes.
Den består kun af fire underenheder, kemiske substanser (dexyribonucleotider), der indeholder ademin ( A) , cytosin( C ), guanin ( G ) og thymin ( T ).
It consists of just four subunits, the chemical substances (deoxyribonucleotides) containing the adenine (A) , cytosine (C) , guanine (G) , and thymine (T) bases.
Disse underenheder, der også kaldes nucleotider, er forbundet med hinanden, og danner en lang lineær kæde.
These subunits, also called nucleotides, are linked together to form an extremely long strand.
Et typisk DNA-molekyle består af to lange kæder, der holdes sammen ved hjælp af gensidig påvirkning (komplementær binding mellem baserne A og T og mellem punkterne C og G. DNA-molekylet ligner en vindeltrappe og kaldes for en ”dobbeltspiral”.
A typical DNA molecule consists of two long chains held together by interaction (complementary base pairing) of the A and T and the C and G bases.
Hvis vi kalder de to kæder A og A`, kan kæde A tjene som skabelon for A’, mens kæde A` på samme måde kan danne en ny kæde A. Kilde: ”Alberts, Bruce et al.
Given that each strand contains a nucleotide sequence exactly complementary to the nucleotide sequence of the partner strand, both strands carry genetic information.
Molecular Biology of the cell, 3. udgave, 1994.
If two strands are termed A and A’, strand A can serve as a template to produce a new strand A’, and strand A’ can serve in the same way to form a new strand A. Source: Alberts, Bruce, and others: Molecular Biology of the cell , third edition, 1994.
Hele informationen i DNA afhænger af rækkefølgen af baser i DNA-molekylet.
All the information contained in DNA is determined by the order in which the bases are arranged along the length of the DNA molecule.
På samme måde som det engelske alfabet består af 26 bogstaver, kan nucleotiderne - A, C, G eller T - betragtes som bogstaver i et alfabet med 4 bogstaver, som bruges til at beskrive biologiske meddelelser.
In the same way as the English alphabet consists of 26 letters, each nucleotide – A, C, G, or T – can be regarded as a letter in a 4-letter alphabet used to transcribe biological messages.
Disse 4 bogstaver er tilstrækkelige til at skabe en enorm biologisk variation, da en typisk dyrecelle består af ca. 3 milliarder nucleotider, der svarer til en meter DNA.
These four letters are sufficient to generate immense biological variety, since a typical animal cell consists of approximately three billion nucleotides, equivalent to a metre of DNA.
Når en celle er ved at dele sig, kan DNA ses i mikroskopet som kromosomer, hvori DNA-molekyler er ordnet.
When a cell is about to divide, the DNA can be seen under a microscope in the form of chromosomes , in which the DNA molecules are organised.
Kromosomerne er således dannet af DNA.
Chromosomes are thus made of DNA.
Generne er sektioner af DNA, og de bærer alle instruktioner, som kroppen har brug for til at fungere.
Genes , sections of DNA arranged in line along the length of the chromosomes, carry the instructions that an organism needs in order to function.
Hvis man vil illustrere forholdet mellem DNA, gener og kromosomer for at få en større forståelse, kan man sammenligne kromosomerne med et lydbånd: DNA er båndet i kassetten, og generne er melodien på båndet "Human genetics: Choice and responsibility" – British Medical Association -1998 .
The following analogy could be used to illustrate the relationship between DNA, genes, and chromosomes in order to understand it more clearly: chromosomes can be likened to an audio cassette, DNA to the tape inside the cassette, and genes to the song recorded on the tape ‘Human genetics: Choice and responsibility’ – British Medical Association, 1998. .
Figur 2: Illustration af forholdet mellem DNA, gener, kromosomer, celler og organismer
Figure 2: Relationship between DNA, genes, chromosomes, cells, and organisms
Hele arvemassen i kromosomerne hedder et genom.
The genetic material as a whole contained in the set of chromosomes is called the genome .
Den måde, som det genetiske materiale kombineres på i hver kønscelle, er unik.
The combination of genetic material in each germ cell is consequently unique.
Under befrugtningen, når ægcellen og sædcellen forenes, dannes de to homologe sæt arvelige enheder igen i en proces, hvor begge forældre bidrager på tilfældig måde.
During fertilisation, when an ovum fuses with a spermatozoon, the two sets of homologous genes are reconstituted, a process to which both parents contribute at random.
Imidlertid er det de to resterende kromosomer, der afgør kønnet på barnet, og de hedder derfor kønskromosomer.
The remaining two chromosomes, however, determine the sex of the offspring and are thus called sex chromosomes.
Kvinder har to X-kromosomer, mens mænd har et X-kromosom og et Y-kromosom; begge parter overfører 1 af disse kromosomer til barnet.
Females have two ‘X’ chromosomes, whereas males have one ‘X’ and one ‘Y’ chromosome; each of the two partners will pass on one of these chromosomes to their child.
Alle ægcellerne indeholder et X-kromosom (et af de to X-kromosomer fra moderen), og derfor giver moderen altid et X-kromosom til børnene.
All ova contain an X chromosome (one of the mother’s two X chromosomes), and a mother will therefore always pass on an X chromosome to her offspring.
Imidlertid kan en sædcelle indeholde et X-kromosom eller et Y-kromosom.
However, a spermatozoon can carry an X or a Y chromosome.
Hvis ægcellen derfor befrugtes med en sædcelle, der indeholder et X-kromosom, bliver resultatet en pige (XX); hvis den bliver befrugtet af en sædcelle med et Y kromosom, bliver resultatet en dreng (XY).
An ovum fertilised by a spermatozoon carrying an X chromosome will thus produce a female (XX), whereas an ovum fertilised by a spermatozoon carrying a Y chromosome will produce a male (XY).
Figur 3: En komplet kromosomsekvens fra en mand, gjort synlig ved hjælp af farvelægning i mikroskop
Figure 3: A man’s complete set of chromosomes, made visible by microscopic staining
For at overføre hele den genetiske information til den næste generation skal alle cellens kromosomer, inden den deles, kopieres.
In order to pass on its complete genetic information to the next generation, a cell, before dividing, has to duplicate the entire set of chromosomes.
Denne kopiering er ikke perfekt, det vil sige en gang i mellem kan der opstå fejl.
The mechanism which carries out that process is not perfect, and errors can consequently sometimes occur.
Fejlene hedder mutationer.
The errors are called mutations .
Mutationer kan vedrøre enkelte gener, men ikke hele kromosomer.
Mutations can affect whole chromosomes as well as individual genes.
- Et eksempel på genetisk mutation , der skyldes en fejl under DNA - replikationen, er udskiftningen af en enkelt nucleotid i DNA rækkefølgen.
- An example of genetic mutation caused by an error in the DNA replication process is the substitution of a single nucleotide within a DNA sequence.
For eksempel i stedet for …ATG G ACG... kan dattercellen arve en version ATGTACG, der er lidt anderledes på grund af en fejl i kopieringen.
Instead of … ATG G ACG …, for instance, a daughter cell could inherit a slightly different version, … ATG T ACG …, as a result of an error while the sequence was being copied.
Selv om den tilsyneladende er normal, kan et sådant fænomen forårsage alvorlige defekter: Patienter, som lider af cystisk fibrose, har nogle enkle udvekslinger af nucleotider, der ligner dem, der er i det tilsvarende gen for cystisk fibrose.
Though apparently normal, this phenomenon can cause severe defects: in cystic fibrosis patients, nucleotides have been substituted in the manner described above in the gene responsible for cystic fibrosis.
- Et eksempel på kromosomal mutation , der skyldes en fejl under celledelingen, er trisomi 21, også kendt som Downs syndrom.
- An example of chromosomal mutation caused by an error during cell division is trisomy 21, also known as Down’s syndrome.
Normalt består kromosomale mutationer af genplacerede kromosomdele, af anormale mængder af individuelle kromosomer eller af anormale mængder af kromosommasse.
Chromosomal mutations generally involve parts of chromosomes which have been rearranged within the same chromosome or become attached to another chromosome or abnormal numbers of individual chromosomes or sets thereof.
Alligevel har alle mennesker muterede gener, der er potentielt skadelige.
However, all human beings carry potentially harmful mutated genes.
Sandsynligheden for, at en genmutation forårsager en sygdom, afhænger af diverse faktorer:
The possibility that a genetic mutation will cause a disease depends on several factors, namely:
- den måde sygdommen er overført på;
- the way in which the disease is transmitted;
- om sygdommen er forårsaget af:
- whether the disease is caused by:
- en defekt på et enkelt gen (en sygdom forårsaget af defekter i et enkelt gen) - en polygenetisk dysfunktion: For at sygdommen udvikler sig, kræves mere end ét defekt gen. - en multifaktoriel dysfunktion: Den genetiske defekt øger risikoen for, at et individ udvikler sygdommen, men den egentlige udvikling af sygdommen afhænger af eksterne faktorer som kost, fysisk aktivitet, rygning, miljøskadelige stoffer osv.
- a defect in a one gene only (single-gene disorder) , - a polygenic dysfunction , i.e. there has to be more than one defective gene to enable the disease to develop, - a multifactorial dysfunction , i.e. the genetic defect increases an individual’s susceptibility to the disease, but whether he or she actually becomes ill depends on external factors such as diet, physical exercise, smoking, noxious substances in the environment, etc.
Ethvert individ arver to sæt kromosomer og dermed to homologe sæt gener.
Every individual inherits two sets of chromosomes and hence two sets of homologous genes.
Derfor kan et individ for et hvilket som helst gen arve to normale, én normal og én defekt eller to defekte kopier.
An individual can thus inherit two normal copies of any given gene, or one normal and one defective copy, or two defective copies of that gene.
Personer med to normale kopier af et specifikt gen vil ikke lide af den sygdom, der er knyttet til mutation af genet.
Individuals with two normal copies of a given gene will not suffer from the disease associated with mutation of the gene.
Personer med to defekte kopier vil blive ramt.
Individuals with two defective copies will contract the disease.
Men for personer med én normal kopi og én defekt kopi afhænger udviklingen af sygdommen af transmissionsmåden af denne særlige dysfunktion.
However, when individuals have a normal copy and a defective copy, the possibility of developing the disease depends on the way in which the dysfunction in question is transmitted.
For sygdomme forårsaget af en defekt på et enkelt gen er der tre almindelige typer af arvegange: dominant, recessiv og bundet til X-kromosomet .
Diseases caused by a defect in a one gene only (single-gene disorders) are governed by three common types of hereditary pattern, namely the dominant type, the recessive type, and the X-linked type.
Autosomale dominante sygdomme
Autosomal dominant diseases
Et eksempel på en dominant sygdom er Huntington's sygdom.
An example of a dominant disease is Huntington’s chorea .
Personer, som arver en enkelt kopi af det defekte gen, bliver syge .
Individuals who inherit a single copy of the defective gene will fall ill .
Disse personer har én rask og én defekt kopi af genet.
These persons will have a healthy copy and a defective copy of the gene.
Følgelig vil halvdelen af deres kønsceller bære den sunde kopi af genet, mens den anden halvdel vil bære den defekte kopi.
Half of their germ cells will therefore carry the healthy copy of the gene, whereas the other half will carry the defective copy.
Hvis en ægcelle, som bærer den defekte kopi, bliver befrugtet, vil afkommet blive sygt, uafhængigt af sædcellens genetiske komposition.
If an egg carrying the defective copy is fertilised, the resulting offspring will contract the disease, irrespective of the genetic make-up of the spermatozoon.
Endvidere vil afkommet blive sygt, hvis en sædcelle, som bærer et defekt gen, befrugter en ”rask” ægcelle.
Furthermore, if a spermatozoon carrying the defective gene fertilises a ‘healthy’ ovum, the offspring will become ill.
Kun afkom, som stammer fra befrugtning af en ”rask” ægcelle med en ”rask” sædcelle, vil ikke blive sygt.
The only offspring who will escape the disease are those resulting from fertilisation of a ‘healthy’ ovum by a ‘healthy’ spermatozoon.
Figur 4 : Autosomal dominant arvegang
Figure 4: Autosomal dominant inheritance
Kilde: "British Medical Association – Human genetics: Choice and responsibility" , 1998
Source: British Medical Association, ‘Human genetics: Choice and responsibility’ , 1998
Recessive autosomale sygdomme
Autosomal recessive diseases
Et eksempel på en recessiv sygdom er cystisk fibrose .
An example of a recessive disease is cystic fibrosis .
For at blive syg skal barnet arve to defekte kopier af genet, da et normalt raskt gen udligner fejlen i den anden kopi.
To become ill, a child has to inherit two defective copies of the gene involved, since a normal gene will cancel out the defect in the other copy.
Personer med et sygt gen og et raskt gen kaldes ”bærere”, og de bliver sandsynligvis ikke syge.
Individuals who have one defective gene and one healthy gene are called ‘carriers’ and do not usually fall ill.
Hvis bærerne får børn med en anden bærer, er sandsynligheden for, at barnet arver to defekte kopier og dermed bliver syg, 25%
If carriers have children by another carrier, the probability that a child will inherit two defective copies and consequently fall ill is 25%.
Under alle omstændigheder er sandsynligheden for, at børnene selv bliver bærere, 50%, mens sandsynligheden for, at de arver to raske kopier og derfor ikke bliver syge og ikke bærere, 25% (Figur 5).
However, the probability that the children will themselves become carriers is 50%, and the probability that they will inherit two healthy copies and hence escape the disease is 25% (Figure 5).
X-kromosombundne sygdomme
Autosomal X-linked diseases
Et eksempel på en sådan sygdom er Duchennes muskeldystrofi.
An example of a disease in this category is Duchenne muscular dystrophy .
I sygdomme bundet til X-kromosomet hos kvinder, er der sket mutationer i gener, der er lokaliseret i X-kromosomet.
In X-linked diseases the mutation occurs in genes located on the X chromosome.
Hos kvinder er hovedparten af disse sygdomme recessive, og den sunde kopi kompenserer for den defekte.
In women most of these diseases are recessive, and the healthy copy thus cancels out the defect.
Sygdommen rammer således normalt kun mænd, fordi de kun har et X-kromosom, som de har arvet fra moderen.
In general, therefore, the diseases affect males only because they have just one X chromosome, inherited from their mother.
X XX Y
X Y X X
Moder (rask bærer)
Mother (healthy carrier)
Figur 6: X-kromosombunden arvegang
Figure 6: X-linked inheritance
Kilde: "British Medical Association – Human genetics: Choice and responsibility", 1998
Source: British Medical Association, ‘Human genetics: Choice and responsibility’, 1998
Generne er ansvarlige for de cellefunktioner, som bruges i en levende organisme.
Genes are responsible for the cell functions used during an organism’s lifetime.
Generne agerer ikke selv aktivt i organismen, men indeholder information til produktion af proteiner .
They do not, however, actively perform actions in the organism, but rather supply information for the production of proteins .
Proteiner udfører næsten alle de nødvendige opgaver i en celle, for at cellen kan fungere.
Within a cell, proteins perform virtually all the tasks necessary for the cell to function.
Blandt andet kan proteinerne transportere stoffer, give struktur, sørge for kommunikation med andre celler og lette de kemiske reaktioner.
Among other functions, they can carry matter, give structure, communicate with other cells, and facilitate chemical reactions.
Proteinernes byggesten er aminosyrer (as), som er bundet sammen efter en vis rækkefølge og således danner lange kæder af aminosyrer, dvs. et protein.
The building blocks of proteins are amino acids , which are linked together to form long chains, that is to say, a protein.
På samme måde som forskellige organismer har forskellige DNA-sekvenser, har forskellige proteiner i en organisme en forskellig rækkefølge af aminosyrer (også kaldet aminosyresekvens).
Just as different organisms have different DNA sequences, so are the amino acids making up different proteins within the same organism configured in each instance in a different order (also called the amino acid sequence).
Som allerede nævnt tidligere, er generne kromosomafsnit, som rummer koder for dannelse af proteiner.
As already mentioned above, genes are regions on the chromosomes which code for proteins.
Det er dog vigtigt at fremhæve, at de kodende områder i et gen (exoner) veksler med ikke-kodende områder (introner), som ikke indeholder information til produktionen af proteiner.
It is important to note, however, that the coding regions within a gene (exons) are bounded by non-coding regions (introns) that do not supply information for the production of proteins.
Det betyder, at størstedelen af DNA’et er overflødigt og ifølge vores nuværende viden ikke har nogen erkendt funktion.
Not all DNA, then, codes for proteins and it seems in reality that much of it is superfluous and, according to our current understanding, has no discernible function.
RNA ligner DNA meget, den vigtigste forskel er, at i RNA erstattes basen thymin (T) med basen uracil (U).
RNA is very similar to DNA, the main difference being that the thymine base (T) is replaced by the uracil base (U).
Alligevel indeholder RNA hele sekvensen af informationen, som er kopieret fra DNA.
It does, however, contain all the information from the DNA sequence from which it has been transcribed.
Denne proces hedder transskription af DNA.
This process is termed DNA transcription.