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Gener og morro

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adiop's version from 2017-08-23 17:29

Section

Question Answer Column 3 Column 4 Column 5
Autosomal dominantvertical pedigree pattern w. multiple generations affectedaffected person has at least one affected parentchild of affected person has 50/50 sjans for å ble affectedm og f equaly likely to pass the condition on and be affected
Autosomal recessivehorizontal pedigree pattern w. one or more sibs affected often only a single affected caseparents and childre of affected people are normaly unaffectedeach subsequent sib of an affected child has 1/4 chance of beeing affectedm. and f. are equaly affectedaffected children are sometimes the product of consaguenious marriages. In families with multiple consaguenious marriages, affected individuals may be seen in several generations
X-linked recessiveA knights move pedegree pattern- affected boys may have affected maternal unclesparents and children of affected people are normaly unaffected, never transmitted from father to sonaffects mainly males: "females can be carriers and affected males in a pedegrie are linked through femails" , not through unaffected malessubsequent brothers of affected boys have a 1/2 of beeing affected, sisters are nor affected but have a 1/2 risk of beeing carriers
X-linked dominantFeatures very similar to autosomal dominant pedigrees, except that all daughters and no sons of an affected father are affectedcondition is often milder and more variable in femails than in males
Y-linkedVertical pedigree patternall sons of an affected father are affectedaffects only males
Mitochondrialvertical pedigree patternchildren of affected men are never affectedall children of an affected woman may be affected, but mitochondrial conditions are typically extremly variable even within a family
Does the pedigree show that affected people have at least one affected parentYes- condition is most likley dominant; Manifests in anyone who carries the gene must have inherrated from one of the parents who should also be affected. MERK! mange conditions skyldes nye mutasjonerNo- ressesive
Are there any gender effectsIf there are no gender effects , the condition is most likely atosomalMale to male = X linked inheritance
Mitosiscelledivisjon
Miosisexplains how the chromosomes are arranged into the sex cells (gametes, the egg and sperm)
gametessex cells (gametes,) contain only half the number of chromosomes (haploid cells – 23 chromosomes in humans)
substitution mutationbase is replaced by one of the other three bases
Deletion (mutation)block of one or more DNA pairs is lost
Insertion (mutation)block of one or more DNA pairs is added
Inversion (mutation)180˚ rotation of piece of DNA
Reciprocal translocation (mutation)parts of nonhomologous chromosomes change places
Chromosomal rearrangements (mutation)affect many genes at one time Missense mutation: changes an amino acid to another amino acid. This may or may not affect protein function, depending on whether the change is “conservative” or “nonconservative,” and what the amino acid actually does.
Nonsense mutationchanges an amino acid to a STOP codon, resulting in premature termination of translation. “Silent” mutationdoes not change an amino acid, but in some cases can still have a phenotypic effect, e.g., by speeding up or slowing down protein synthesis, or by affecting splicing.
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Frameshift mutation: Deletion or insertion of a number of bases that is not a multiple of 3. Usually introduces premature STOP codons in addition to lots of amino acid changes.
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phatogeniccausing desease
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A chromosomal duplication in which the duplicated segments are adjacent (i.e. in tandem) whether or not they are inverted.
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tandem repeatskorte gjentagende nukleotid sekvenser GTC,GTC,GTC,GTC, på DNAet
dosage sensitive genehvis vi har en 50% økning eller minking av antall kopier av genet ( f.eks. 1 eller 3 kopier av genet der det vanligvis bare hadde vært 2) fører til en endring i phenotype
phenotypethe composite of an organism's observable characteristics or traits
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