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Genetics Outline 1
Topic - Genetics
3.1 Chromosomes, genes and alleles
 chromosomes: made up of proteins called “histoids”, DNA, proteins
 when chromosomes are stained, they appear banded (black and white)
 identify the genes that are active
 genes: portion of DNA molecule, codes for a specific protein (eg. enzyme, hemoglobin)
 has info to produce one protein
 homologous chromosomes: chromosomes that have the same gene locii all along their length
 trisomy 21: down-syndrome gene
 x-chromosome & nothing: Turner’s Syndrome, sterile female, retarded
 xxy-chromosome: male w/breasts (MeatLoaf in Fight Club)
 lifecycle of humans and every organsim alive alternates between diploid stage and haploid
 diploid stage most familiar with, haploid stage (sperm and egg) microscopic
 sperm and egg, n chromosomes, come together and produce 2n (46); goes through mitosis
 as soon as babt gets to adult, go through meiosis (produce cells that have n)
 Mitosis: 2 cells identical to each other
 Meiosis: 4 cells, not identical at all; start w/2n, go through series of divisions, end w/4 cells (n)
3.1.1 Eukaryote
 comprised of DNA and proteins
 cell that contains nuclear envelope
3.1.2 Banding
 chromosomes can be stained to show bands of genetic info
3.1.3 Staining
 karyotyping done like this
 organize chromosomes into homologous pairs by staining them
 use bands to match them together
3.1.4 Application of Karyotyping
 identify abnormalities of unborn children through amniocentesis (trisomy, aneuploidy, chromosomal deletions)
 take sample of amniotic fluid, karyotype done on that sample
 characteristics of the cell and its predecessor
 research of all kinds
3.1.5 Gene
 separate units of DNA located on chromosomes
 don’t combine characteristics they carry, except in polygenic inheritance
3.1.6 Allele
 alternative forms of genes that account for variations in inherited characteristics
 one specific form of a gene, differs from other alleles (bases are slightly different) but occupies same locus on chromosome as other alleles of same gene
 at the very least there are 2 alleles for each trait
 blood type is one example of more than 2 alleles (A, B, O)
 skin colour has TONS
 dominant allele: gene that is functioning and therefore produces the proteins which then produce the characteristic/trait
 recessive allele: gene that is NOT functioning and therefore doesn’t produce the proteins needed to produce the characteristic/trait
3.1.7 Genome
 all genetic material of an organelle, cell or organism
3.2 Gene Mutation
3.2.1 Gene Mutation
 chromosome mutations are different from gene mutations
 CMs involve large section of chromosomes (Down’s Syndrome, Turner’s Syndrome)
 gene mutations are smaller change, involve genetic material of one gene only
 change in the base sequence of a gene
3.2.2 Insertion/Deletion
 insertion: organic base (nucleotide) added to DNA
 deletion: organic base (nucleotide) deleted from DNA
 can result in coding for completely different proteins, thus changing desired outcome of DNA
 could have MAJOR impact on cell’s functionality
3.2.3 Substitution Mutation
 base mutations (point mutations) happen when one nucleotide is replaced by a different one
 can affect resulting protein created
 can cause great distortions during transcription and translation
 DNA being read incorrectly, don’t produce correct protein
 differing nucleotide sequence can change protein shape, thus affecting all following functions
 some mutations are inconsequential because happen in “junk” DNA
 also might not matter because can still code for same amino acid, resulting in same protein
 sickle cell anemia is example of mutation, a polar protein is replaced by a non-polar one
3.3 Meiosis
 just like in Mitosis, most action happens in prophase
Prophase I
 nuclear membrane disintegrates, etc.
 main thing is that homologous chromosomes line up and come together
 homologous chromosomes: 2 pairs of sister chromatids, not identical but similar
 called tetrad, when joined in tetrad get crossing over (chiasmata/synapsis)
Metaphase I
 nothing splits, but homologous pairs are split and sent to separate ends
Anaphase I
 homologous chromosomes sent to separate ends, begin cytokinesis
Telophase I
 get two new cells, homologous chromosomes in own cell
Prophase II
 break down nuclear envelope, get replication of chromosomes (2n)
Metaphase II
 all genetic info is lined up on metaphase plate in random order
Anaphase II
 get actual split of sister chromatids, chromosomes go to either end of cell
Telophase II
 get reformation of nuclear envelope
 have 4 new cells (not identical to one another) w/n chromosomes
3.3.1 Definition
 goal is to produce gametes, reduction division of chromosome numbers
 only occurs in diploid cells, reduces number of chromosomes per cell
 daughter ccells contain half number of chromosomes
 during fertilisation get to 2n, otherwise always n
3.3.2 Process
 listed above, not too bad…
3.3.3 Genetic Variety
 separate homologous chromosomes, thus get variety in daughter cells
 ususally receive set of genes from each parent, but in meiosis it’s random
 independent assortment occurs after replication
3.3.4 Non-disjunction
 disjunction is the normal process of homologous chromosomes splitting in Anaphase I
 when the homologous chromosomes don’t separate in Anaphase I get non-disjunction
 in other words, the 2 pairs of sister chromatids remain in the same newly formed cell
 can result in aneuploidy (one extra or one missing chromosome) or polyploidy (Down’s Syndrome)
3.3.5 Mendel’s Law
 Law of Segregation: allele pairs separate during gamete formation and randomly reform pairs during fusion of gametes at fertilization
 get n in gamete formation, get 2n in fertilization
3.3.6 Relationship
 Mendel’s law relates to genes located on chromosomes
 since the homologous chromosomes pair up and then separate, one chromosome from each homologous pair ends up in a daughter cell
3.4 Theoretical Genetics
3.4.1-3.4.10
 genotype: alleles possesed by an organism (not seen)
 phenotype: visible expression of alleles possessed by an organism (visible)
 dominant allele: gene that is functioning and therefore produces the proteins which then produce the characteristic/trait
 recessive allele: gene that is NOT functioning and therefore doesn’t produce the proteins needed to produce the characteristic/trait
 codominant allele: alleles that have partial effect on phenotype when present, greatest impact when homozygous (blood type, made up of A, B, O)
 locus: particular position of gene on homologous chromosome
 homozygous: two identical alleles of a gene
 heterozygous: two different alleles of a gene
 carrier: usually a heterozygous organism, carries recessive allele of a gene that doesn’t have effect on phenotype
 test cross: test suspected heterzygote by crossing it w/known homozygous recessive
3.4.11 Punnet Grid/Square
 way to find expected ratio of offspring given specific parental phenotypes
3.4.12 Pedigree Chart
 used to show inheritance of certain traits over several generations
3.4.13 Multiple Alleles
 just like blood type
 some genes have more than two alleles
 skin colour has a ton of alleles
3.4.14 Blood Group & Codominance
 this is a prime example of multiple alleles and codominance
 A & B are codominant, and O is recessive
3.4.15 Sex Chromosomes
 these chromosomes determine offspring gender
 females = XX, males = XY
 can be treated as any other trait, therefore can use Punnet Square to estimate offspring
 the X chromosome (present in both sexes) is the longer of the two
 several genes are located on the X chromosome and are absent on the smaller Y chromosome
3.4.17 Sex Linkage
 genes that are carried on the sex chromosomes, most often on the X
3.4.18 Examples
 colourblindness and hemophilia
 both are recessive and are found on the X
3.4.19 Sex Linkage
 females can be homozygous dominant/recessive and heterozygous for a specific sex-linked trait
 males can’t be heterozygous because only have 1 X chromosome
 for hemophilia, homozygous recessive females don’t exist because would die during period
3.4.20 Female Carriers
 called carriers because don’t express gene in phenotype but can pass it on to offspring
3.4.21 Ratios
 Mendel’s First Law: law of segregation, genes are in pairs and split so that one gene is present in each daughter cell
 Mendel’s Second Law: law of independent assortment, any one chromosome from sister chromatids can combine w/any of another pair
3.4.22 Pedigrees
 have to be able to determine the genotypes of peoples in pedigree chart, no worries…
3.5 Applied Genetics
3.5.1 Genetic Screening
 testing a population for presence/absence of a gene
 preventive approach to genetic disorders
 offspring’s risk of genetic disorder assessed during early pregnancy or before conception
 examine karyotype to determine sex, genetic abnormalities/makeup
 ultimately to be able to decide on terminating pregnancy or to interfere in other ways
 counselling on different alternatives
3.5.2 Advantages/Disadvantages
Advantages
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Disadvantages
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identifying long-term disabilities
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unnatural selection
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detecting problems & correcting them
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discrimination
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DNA analysis, karyotype
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ethical aspect, do you have the right?
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determine if susceptible to diseases
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anti-abortionists disagree w/practice
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prevents birth of child w/disorders, pregnancy of diseased child can be aborted
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involves other moral/ethical issues
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saves financial burden of raising child w/disability
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can prevent people from passing on unwanted genes to offspring
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3.5.3 Human Genome Project
 international cooperative venture to sequence entire genome of human being
 expected to be done by 2005
 project to sequence the all the genes in all the chromosomes
 sequence of the DNA in the genes
 undertaken by many coutnries, already gone on for 10-15 years
 will continue probably for another 5-10 years
3.5.4 Advantages
 understanding of genetic diseases and subsequent cures developed
 allow determination of genetic diseases which any individual may be prone to
 this last point can be taken advantage of (discrimination)
3.5.5 Clone
 group of organisms of identical genotype
 group of cells descendants from a single parent cell
 lineage of genetically identical individuals
3.5.6 Technique of Cloning
 use cluster of 8 cells produced by cleavage divisions of zygote
 completely undifferentiated (haven’t started to specialize)
 cells placed in respective female uterus (in vitro), 8 genetically identical offspring should result
 currently used for cloning genetically altered animals to produce pharmaceutical chemicals
3.5.7 Ethical Issues of Cloning
 essentially, is it right to do so?
 it may lead to superior race, etc.
 all kinds of crap like that
3.5.8 Crop Plant and Animal Breeding
 breed domesticated animals and crop plants over hundreds of years
 modern agricultural techniques of breeding for disease resistance, increased food production, higher yields (milk, corn, wheat, etc.)
 selective breeding results in continuation of desired traits in offspring
Cloning Video
 Dolly born through process w/out fertilization
 cells extracted from udder
 egg taken from another
 genes from other cells placed in egg
 cells divided, specialized and Dolly was born
 theoretically can make same number of Dolly’s as are cells
 trying to make new cows using somatic cells
 cells extraced from body of fetus
 parent of cloned life is somatic cell not parent sperm or egg
 uses cells from skin, should result in birth of one cow
 Hypothesis: each cell contains swet of genes and they all contain same info as all other, then specialize
 genes that aren’t needed lay dormant
 at one time, scientists thought genes stay dormant forever, but proven wrong through cloning
 nucleus transfer, very delicate, use a glass tube 1/100 mm thick
 genes removed from unfertilized egg
 egg contains no genes whatsoever, then put in skin cell from fetus, added diploid cell
 shock it to get egg working
 cell fusion, wakes up dormant genes in cell
 20 hours later, egg cells begin to divide
 egg repeatedly divides once every 24 hours
 surrogate mothers needed, 2 eggs placed in uterus of cow
 baby will be born in 9 months, but acceptance rate of eggs is only 45%
 want to apply it to medicine for transport medicine
 develop pigs’ organs more like humans’; animal factory idea
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