CHAPTER 5 - HERITAGE
5.1 Differences between people
The properties that make us human have their basis in the DNA in the chromosomes -> that
means that not everyone has the same properties -> how you look determines not only your
DNA but also the environment and the lifestyle -> all your traits together form your
phenotype (FT) -> the manual for forming those traits is located in the genes on your DNA:
your genotype (GT) -> genes are pieces of DNA with the code for a protein -> together with
the rest of the DNA and DNA in your mitochondria they form your genome -> consists of the
bases A, T, C and G
Cholesterol enters your blood through fatty foods -> in cells of your liver and your muscles
are genes active to make the cells make cholesterol -> the blood transports all the
hydrophobic cholesterol packed in vesicles -> the cells use special absorb those vesicles
receptors to -> these enable the endocytosis of the vesicles (endocytosis = the process wa
where the cell absorbs substances that have been enclosed by the cell membrane)
Your genome is mainly contained in 23 pairs of chromosomes of your body cells -> the DNA
in your chromosomes contains, for example, genes for blood proteins and enzymes -> such
variants of a gene are called alleles (allele) -> a number of alleles lead to receptors that are
not harmful -> various harmful alleles play a role in familial hypercholesterolaemia (FH) ->
can lead to a reduced production of receptors / receptors that do not work properly -> cells
are therefore unable to Removing vesicles with cholesterol from the blood
Alleles for each gene occur -> the combination in which the alleles occur together on a
chromosome is the haplotype of that chromosome -> during fertilization you received a
complete set of chromosomes from your father and mother -> because of this you have of all
chromosomes in pairs, with each chromosome of a pair of own combination of alleles: its
own haplotype
Mutations by certain lthe substances, radiation and even the own body heat lead to changes
in the DNA and to variation in genotypes
5.2 Viewing chromosomes
Nuclei of normal human cells contain 23 pairs of chromosomes -> 2 to 2 equal in shape and
size and form pairs of homologous chromosomes -> mutually all pairs differ in size and
location of the centromere (BiNaS 70C) -> dyes create a unique band pattern for each pair
-> makes identification easier -> chromosomes are doubled in metaphase -> can karyotype
determineby placing the chromosome in a karyogramportrait (chromosome) -> the longest
chromosome pair comes first: chromosome pair 1 -> then 2 to 22: autosomes -> the 23rd
pair are sex chromosomes -> boys have a large X and Y chromosome, in girls 2 large X
chromosomes -> each X chromosome contains information -> Y chromosome contains
about fifty genes -> 1 is the SRY gene -> directs the sex organs in the male direction g ->
, girls lack the SRY gene and the genitals develop into the vagina, uterus and ovaries -> in a
formula the karyotype of a man is 46, XY and of a woman 46, XX
Spread over the 46 chromosomes of the human genome are genes -> are irregularly
distributed over the chromosomes -> gene mutations are not visible in a karyogram
In a karyogram, researchers sometimes observe a monopoly or trisomy -> there is a
chromosome too little or too much -> genome mutation -> can be caused by an error during
meiosis -> during meiosis , the homologous chromosomes of a pair of chromosomes or the
chromatids did not separate -> germ cells had too few chromosomes -> often the embryo did
not develop -> girls can's Turnersyndrome get-> they only have 1 X chromosome -> English
doctor Down first described trisomy 21 (47XX, + 21 or 47XY, +21)
Sometimes children have congenital abnormalities of the heart or lungs -> karyogram often
shows a chromosome mutation -> change in the hereditary material whereby parts of 2
non-homologous chromosomes have been exchanged or because a chromosome part has
been moved to another chromosome -> translocation -> no effect on the carrier -> children of
a carrier, however, have a risk of mono- or trisomy because the germdeviate from the carrier
cellsDuring a meiosis homologous chromosomes exchange pieces of DNA, causing
recombination to occur -> the same number of alleles pass from one chromosome to the
other as well as vice versa -> this crossing over of alleles does not change in the length of
the chromosome, but the haplotype -> after crossing over, the allele for well-functioning
receptors and the allele for normally working muscles now go together -> on the homologous
chromosome a combination has arisen of everything for badly functioning receptors and
everything for the muscle disease -> chance at fertilization will determine which haplotypes
the offspring inherits -> not only through crossing-over it changes haplotypes -> can also be
changed by a mutation in the DNA -> a base pair AT changes, for example, into CG -> point
mutation -> in the protein that the cell makes with this code end up in another amino acid,
which can change the functioning of the protein -> most point mutations self-repair
Which of the two homologous chromosomes enters a germ cell during meiosis is
coincidence -> the alleles A and a are located on one chromosome pair and B and b on the
other -> with meiosis I, 2 combinations are possible Ab, and aB or AB and ab -> a meiosis
can therefore yield 4 genetically different germ cells -> with 23 pairs of homologous
chromosomes, the combination alone in a fertilized egg is almost always different: 2 brothers
differ - > recombination (redistribution of hereditary material)
5.3 pedigree research
5.1 Differences between people
The properties that make us human have their basis in the DNA in the chromosomes -> that
means that not everyone has the same properties -> how you look determines not only your
DNA but also the environment and the lifestyle -> all your traits together form your
phenotype (FT) -> the manual for forming those traits is located in the genes on your DNA:
your genotype (GT) -> genes are pieces of DNA with the code for a protein -> together with
the rest of the DNA and DNA in your mitochondria they form your genome -> consists of the
bases A, T, C and G
Cholesterol enters your blood through fatty foods -> in cells of your liver and your muscles
are genes active to make the cells make cholesterol -> the blood transports all the
hydrophobic cholesterol packed in vesicles -> the cells use special absorb those vesicles
receptors to -> these enable the endocytosis of the vesicles (endocytosis = the process wa
where the cell absorbs substances that have been enclosed by the cell membrane)
Your genome is mainly contained in 23 pairs of chromosomes of your body cells -> the DNA
in your chromosomes contains, for example, genes for blood proteins and enzymes -> such
variants of a gene are called alleles (allele) -> a number of alleles lead to receptors that are
not harmful -> various harmful alleles play a role in familial hypercholesterolaemia (FH) ->
can lead to a reduced production of receptors / receptors that do not work properly -> cells
are therefore unable to Removing vesicles with cholesterol from the blood
Alleles for each gene occur -> the combination in which the alleles occur together on a
chromosome is the haplotype of that chromosome -> during fertilization you received a
complete set of chromosomes from your father and mother -> because of this you have of all
chromosomes in pairs, with each chromosome of a pair of own combination of alleles: its
own haplotype
Mutations by certain lthe substances, radiation and even the own body heat lead to changes
in the DNA and to variation in genotypes
5.2 Viewing chromosomes
Nuclei of normal human cells contain 23 pairs of chromosomes -> 2 to 2 equal in shape and
size and form pairs of homologous chromosomes -> mutually all pairs differ in size and
location of the centromere (BiNaS 70C) -> dyes create a unique band pattern for each pair
-> makes identification easier -> chromosomes are doubled in metaphase -> can karyotype
determineby placing the chromosome in a karyogramportrait (chromosome) -> the longest
chromosome pair comes first: chromosome pair 1 -> then 2 to 22: autosomes -> the 23rd
pair are sex chromosomes -> boys have a large X and Y chromosome, in girls 2 large X
chromosomes -> each X chromosome contains information -> Y chromosome contains
about fifty genes -> 1 is the SRY gene -> directs the sex organs in the male direction g ->
, girls lack the SRY gene and the genitals develop into the vagina, uterus and ovaries -> in a
formula the karyotype of a man is 46, XY and of a woman 46, XX
Spread over the 46 chromosomes of the human genome are genes -> are irregularly
distributed over the chromosomes -> gene mutations are not visible in a karyogram
In a karyogram, researchers sometimes observe a monopoly or trisomy -> there is a
chromosome too little or too much -> genome mutation -> can be caused by an error during
meiosis -> during meiosis , the homologous chromosomes of a pair of chromosomes or the
chromatids did not separate -> germ cells had too few chromosomes -> often the embryo did
not develop -> girls can's Turnersyndrome get-> they only have 1 X chromosome -> English
doctor Down first described trisomy 21 (47XX, + 21 or 47XY, +21)
Sometimes children have congenital abnormalities of the heart or lungs -> karyogram often
shows a chromosome mutation -> change in the hereditary material whereby parts of 2
non-homologous chromosomes have been exchanged or because a chromosome part has
been moved to another chromosome -> translocation -> no effect on the carrier -> children of
a carrier, however, have a risk of mono- or trisomy because the germdeviate from the carrier
cellsDuring a meiosis homologous chromosomes exchange pieces of DNA, causing
recombination to occur -> the same number of alleles pass from one chromosome to the
other as well as vice versa -> this crossing over of alleles does not change in the length of
the chromosome, but the haplotype -> after crossing over, the allele for well-functioning
receptors and the allele for normally working muscles now go together -> on the homologous
chromosome a combination has arisen of everything for badly functioning receptors and
everything for the muscle disease -> chance at fertilization will determine which haplotypes
the offspring inherits -> not only through crossing-over it changes haplotypes -> can also be
changed by a mutation in the DNA -> a base pair AT changes, for example, into CG -> point
mutation -> in the protein that the cell makes with this code end up in another amino acid,
which can change the functioning of the protein -> most point mutations self-repair
Which of the two homologous chromosomes enters a germ cell during meiosis is
coincidence -> the alleles A and a are located on one chromosome pair and B and b on the
other -> with meiosis I, 2 combinations are possible Ab, and aB or AB and ab -> a meiosis
can therefore yield 4 genetically different germ cells -> with 23 pairs of homologous
chromosomes, the combination alone in a fertilized egg is almost always different: 2 brothers
differ - > recombination (redistribution of hereditary material)
5.3 pedigree research
