Passing on information Flashcards

1
Q

What is Genetics

A

-Genetics is the study of inherited variation

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2
Q

Inheritance

A

◆ Clonal inheritance
● Genetic material must be copied then partitioned into daughter cells
◆ DNA replication
◆ Partitioning of copied material
-There are checkpoint that ensure fidelity G1( cell growth and damage), G2(Cell size and DNA replication)

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3
Q

Mitosis

A
  • Interphase: DNA is loosely pack with two copy of chromosome
  • Prophase: DNA start to condense, Spindel structure develop form microtubules and attach to centrosome
  • Metaphase: Microtubules attach to the centromere and pull it to the middle of the cell vertically
  • Anaphase: Spindle pull centromere apart so each sister chromatids are pulled to the opposite side of the cell
  • Telophase: forming two new cell via cytokinesis
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4
Q

Genomes and Ploidy

A

-the number of Genomes are not all the same in different species
-Genome size is not dependent on organism size
Ploidy
Number of copies of the genome (denoted by n)
● Haploid (n), diploid (2n), triploid (3n), etc.
● Ploidy not necessarily static
◆ Lifecycle
◆ Somatic cells versus gametes
-Evolution

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5
Q

Chromosomes

A

Structures that make up the genome
● Made up of genetic material (DNA or RNA)
● can be Circular or linear
-Have many Substructure ◆ Centromere, telomere, origins of replication, etc.
-Chromosome number varies between organism
- Genetic material can be found outside of chromosomes ◆ Plasmids ◆ Organelles (mitochondria and chloroplasts)

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6
Q

Genes

A
Chromosome carry genes 
● Gene number varies between species
◆ Not correlated with genome size
 ◆ Not correlated with chromosome number
 Genes are present in almost all cells 
 Genes in all cells are almost always the same (antibody-producing cell)
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7
Q

Genes, Alleles and DNA

A
  • Genes may or may not encode for a protein(rRNA are not translated)
  • Alleles are variation of a gene define by their locus
  • Alleles have many possibility and the amount depend on the cell’s ploidy
  • the function of protein produce by different alleles might differ from each other
  • They can have repetition or gene family
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8
Q

Genetic Transmission

A

Horizontal transmission : Clonal inheritance number of Ploidy unchanged
Vertical transmission for Mating Allows for exchange and assortment of genetic material

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9
Q

Why is the amount of ploidy reduced during meiosis

A

Ploidy would double each mating if this doesn’t occur

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10
Q

Meiosis

A
  • During metaphase 1, homologous pair of chromosome pair up and aline with each other so after telophase 1, the daugther cell have two copy of the same chromatids
  • division occur again to produce haploid daughter cell
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11
Q

Genetic exchange results in new combinations of alleles

A

● Random Assortment of chromosomes

● Recombination (crossing over) between chromosomes, the location where this occur is called the chiasmata

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12
Q

Errors in division

A

-Non-disjunction occurs in anaphase in meiosis 1 or 2. both homologous goes to the same pole

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13
Q

Sex Determination

A

Many different mechanisms
● Environmental influenced (genetic mechanism)
◆ Reptile sex is determined by incubation temperature of eggs
● Genetic
◆ Ploidy
❖ Hymenoptera (bees) –females (workers and queen) are diploid (fertilized egg), drones are haploid (unfertilized egg)
◆ Ratio of autosomes to sex chromosomes ❖ Drosophila–XY system; female (X/A=1), male (X/A=0.5)
◆ Sex determining gene/chromosome ❖ Mammals –XY system; Y determines maleness ❖ Birds –ZW system; ZZ males and ZW females

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14
Q

Heterogametic and homogametic

A

● Heterogametic -different sex chromosomes

● Homogametic -same sex chromosomes

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15
Q

Chromosomes and Genes

A

◆ Genes are on chromosomes
● Chromosomes carry many genes
● The orientation of a gene is not necessarily the same as the genes around it
● The location of a gene on a chromosome is called a locus(pl. loci)
● Homologous chromosomes carry the same loci (genes) in the same order
-Diploid carry two copy of every gene, one in each of the homologous chromosome
-Some gene only have one copy (hemizygous)

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16
Q

Segregation of Alleles

A

Mendel’s First Law

● Alleles will always segregate away from each other into gametes

17
Q

Multiple allele

A

● Diploids have two copies of every gene ◆ Carry one or two different alleles (A1A1or A2A2; A1A2)
● Genes can have more than two alleles when considered at the population level ◆ A1, A2, A3, A4, etc.
● Diploid individuals have only two of all possible alleles

18
Q

Sex linkage

A

● Some species have sex chromosomes
● Sex chromosomes carry genes just like autosomes
◆ Genes need not be related to sex determination or sexual differences
● Inheritance patterns will differ by sex
◆ Homogametic and heterogametic sexes will have different numbers of alleles
◆ Homogametic sexes carry two alleles and can be homozygous or heterozygous at a locus
◆ Heterogametic sexes carry one allele and are hemizygous at a locus

19
Q

Independent Assortment

A

Mendel’s Second Law
● Alleles of different genes will always assort independently from each other into gametes
● Independent assortment of chromosomes
Phenotypic ratio 9:3:3:1

20
Q

Recombination

A

◆ Recombination frequencies are a proxy for distance between two loci

  • Map distance =100xnumber of recombinant/total progeny
  • Homozygous gene have cis link(SY : sy>Sy: sY)
  • heterozygous gene have trans link(Sy : sY>SY: sy )
21
Q

Test cross

A

◆ Cross to a homozygous recessive individual ◆ Test for linkage ◆ Phenotypic ratio not 1:1:1:1

22
Q

Mutations

A

◆ Mutations can occur anywhere in the genome (genetic material)
● Their effect on gene or genome function can vary:
◆ No effect (silent)
◆ Reduced or complete loss of function
◆ Gain or altered function

23
Q

Dominance/Recessivity

A
  • One functional allele is sufficient to generate a wild type phenotype (dominant)
  • One functional allele is not sufficient to generate a wild type phenotype (incomplete dominant)
  • Both allele is sufficient to generate a wild type phenotype(codominant)
24
Q

Genetic Interaction

A

Organisms have many genes
● Some traits are controlled by one gene ◆ Monogenetic traits
● Many traits are controlled by more than one gene
● Some traits are controlled by many genes ◆ Polygenic traits
● Genes operate together to build traits ◆ Eg.Animal fur characteristics have many aspects
● Genetic interactions can affect inheritance patterns

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epistatic
when the effect of a allele is dependent on the presence or absence of mutations in one or more other genes
26
How does mutation arise
Mutations in the genetic material can arise spontaneously or be induced ● Spontaneous -Replication errors ● Induced -Action of mutagens ◆ Failure to repair leads to inheritance of the mutation
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Where can mutation occur
Mutations can occur anywhere in the genome
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factor that influence the consequence of mutation
◆ Consequences of mutations depend on many factors ● Location in the genome ◆ Eg.Within functional units such as genes or outside ● Type of mutation –size and nature ◆ Eg.Base substitution, deletion, insertion, chromosomal rearrangement ● Somatic versus germ line ● No effect to lethality
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effect of mutation in the coding region of genes
◆ Changes may or may not affect the amino acid sequences of protein coding genes due to Degeneracy of the genetic code. ◆ Changes may or may not affect the structure or function of proteins
30
Single nucleotide polymorphisms
Often referred to a point mutations ● Considering the effect of mutation in the coding region of genes ◆ Four different classes of point mutation ❖ Base substitution ◆ Silent -Change of nucleotide but no change in amino acid specified ◆ Missense - Change of nucleotide and change in amino acid specified ◆ Nonsense -production of a stop condon ❖ Base deletion or addition ◆ Frameshift
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effect of mutation in the non-coding region of genes
◆ Non-transcribed or transcribed but not translated ◆ Changes may or may not affect the timing of gene expression ◆ Changes may or may not affect the location of expression ◆ Changes may or may not affect the level of expression
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Insertions and deletions (Indels) mutation
● Mutations can be small or large ◆ One base pair to hundreds of kilobase pairs ● Mutations may change the reading frame ● Mutations can disrupt gene expression or regulation ● Mutations can fuse different genes together
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Chromosomal Mutations
Large deletions, inversions and translocations ● Mutations are generally large ● Mutations may disrupt gene expression, regulation or function ● Mutations can fuse different genes together
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Genetic Mutational Screens
Geneticists use induced mutations to identify genes that control traits ● Genetic screens