Passing on information Flashcards

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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

25
Q

epistatic

A

when the effect of a allele is dependent on the presence or absence of mutations in one or more other genes

26
Q

How does mutation arise

A

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

27
Q

Where can mutation occur

A

Mutations can occur anywhere in the genome

28
Q

factor that influence the consequence of mutation

A

◆ 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

29
Q

effect of mutation in the coding region of genes

A

◆ 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
Q

Single nucleotide polymorphisms

A

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

31
Q

effect of mutation in the non-coding region of genes

A

◆ 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

32
Q

Insertions and deletions (Indels) mutation

A

● 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

33
Q

Chromosomal Mutations

A

Large deletions, inversions and translocations
● Mutations are generally large
● Mutations may disrupt gene expression, regulation or function
● Mutations can fuse different genes together

34
Q

Genetic Mutational Screens

A

Geneticists use induced mutations to identify genes that control traits ● Genetic screens