Genetics and Inheritance Flashcards

1
Q

Traits and Genes

A
  • Various hereditary characteristics or TRAITS are controlled by GENES.
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2
Q

Alleles

A
  • Each gene has at least two (sometimes more) alternative forms of the gene called ALLELES.
  • Alleles are represented by capital and lower case letters.
  • Upper case letters are DOMINANT
  • Lower case letters are RECESSIVE
  • Dominant alleles mask the appearance of recessive alleles.
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3
Q

Combination of Alleles

A
  • For any one characteristic there may be 3 alternative combinations of alleles: GG, Gg, gg.
  • These are referred to as GENOTYPES
  • If the two alleles are the same they are called HOMOZYGOUS (or pure)
  • If the two alleles are different they are called HETEROZYGOUS (or hybrid)
  • The physical appearance of what these traits look like is called the PHENOTYPE.
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4
Q

Punnet Squares

A
  • Punnet squares allow us to calculate the frequency of a genotype and its appearance (phenotype) for an inherited trait.
  • Through this method we are able to predict the probability of many inherited conditions.
  • The offspring are referred to as the First filial generation (F1)
  • If the first filial generations self-pollinated (interbred) then the second generation of offspring are called the Second filial generation (F2)
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5
Q

Drawing a Punnet Square

A

Drawing a punnett square example:
1. Start off with the parent genotypes:
* Mother – GG (green) Father – gg (yellow)
* In MONOHYBRID CROSSES, only one pair of contrasting pure-breeding characteristics are studied (eg. Yellow pod and green pod colour).

  1. Draw the punnett square table, then enter and determine the genotypes of offspring by crossing parent genotypes:
    G G
    G Gg Gg
    g Gg Gg
  2. Determine the phenotypes and genotypes of offspring:
    * Phenotypes: 100% Green
    * Genotypes: Gg 100%
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6
Q

Incomplete Dominance

A
  • Incomplete Dominance is a form of inheritance in which one allele for a specific trait is not completely dominant over the other allele
  • This results in the heterozygote having a combined (blended) phenotype
  • Incomplete alleles are represented by upper case letters (e.g., RW)
  • For example: Snapdragon flowers
  • The genotype for the red flowers is RR
  • The genotype for the white flowers is WW
  • When a Red flower is bred with a white flower the resultant genotype is RW
  • The Phenotype for the heterozygous genotype RW is a blend of the RED and white which makes Pink
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7
Q

Co-Dominance

A
  • Co-dominance is a form of inheritance in which both alleles for a specific trait present equally in the phenotype
  • The results in the heterozygote having the characteristics of both parents (both traits appear together at the same time – they CO-exist)
  • Co-dominant alleles are also represented by two upper-case letters (e.g. MN)
  • For example: Roan cattle
  • The genotype for the red
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8
Q

Sex Determination

A
  • There are 23 pairs of chromosomes in the human genome
  • The first 22 pairs are called autosomal chromosomes (or autosomes)
    The 23rd pair are the sex chromosomes which determine the gender of an individual
  • There are 2 different sex chromosomes, X and Y
  • The male genotype is XY, and the female genotype is XX
  • The ova produced by a woman will always carry the X chromosome
  • The male sperm can carry the X or the Y, and therefore determines the sex of the offspringX X
    X XX XX
    Y XY XY
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9
Q

Sex Linked Characteristics

A
  • The X chromosome carriers’ genes for traits just like any other chromosome, we call these Sex-linked or X-linked
  • X-linked – traits carried on the X chromosome
  • For X-linkage the X and Y chromosomes must be shown, with the alleles represented by either upper- or lower-case letters in superscript (e.g., XHXh or XhY)
  • In a male, some of the genes on the X chromosomes have no corresponding allele on the Y chromosome
  • So, males only have 1 allele for some characteristics instead of a pair
  • Therefore, any allele on their one X chromosome will be expressed, whether it is dominant or recessive
  • Females have two X chromosomes so they will have two alleles as per usual.
  • These traits are always more common in males than females
  • This is because they are recessive traits, so for a male to be affected his one X chromosome must have the recessive allele (XhY), however for a female to be affected she must have 2 recessive alleles
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10
Q

Calculating Probability

A
  • Percentages can be written as a probability.
  • Eg. 50% = 0.5 probability
  • To calculate the probability of producing a female who also has the trait, the two probabilities must be multiplied.
  • Eg. P = 0.5 x 0.5 = 0.25
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11
Q

Variation

A
  • Variation refers to the differences between members of a species.
  • Sources of variation include:
  • Sexual reproduction
  • Random fertilisation
  • Random assortment of chromosomes
  • Crossing over
  • Non-disjunction
  • Environment
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12
Q

Sexual Reproduction

A
  • Mother and Father will each contribute 50% of the Baby’s DNA. Therefore having a mix of each parents features and their own unique genome.
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13
Q

Random Assortment (Variation)

A
  • Fertilisation occurs when a sperm fuses with an egg.
  • Every egg and sperm cell carries different genetic material.
  • Fertilisation is completely random and there is no way of telling which particular sperm from the male parent will fertilize which egg from the female parent.
  • In addition, each sperm has a different survival rate in the female’s reproductive tract, so it completely up to chance which survive.
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14
Q

Mendel’s 1st Law: Principle of segregation (Random Assortment of Chromosomes during Meiosis)

A
  • Separation of members of a gene pair (2 alleles) occurs during gamete formation and two gametes randomly unite at fertilization.
  • For each gene the offspring will get one allele from each parent giving them the 2 alleles required.
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15
Q

Mendel’s 2nd Law: Principle of independent assortment (Random Assortment of Chromosomes during Meiosis)

A
  • During gamete formation the segregation of the alleles of one allelic pair is independent of the segregation of the alleles of another allelic pair.
  • That is for example the alleles that control eye colour are completely separate from those that control hair colour.
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16
Q

Random Assortment of Chromosomes during Meiosis (Variation)

A
  • During the first meiotic division the chromosomes line up at the equator in HOMOLOGOUS PAIRS
  • These pairs separate at random with one member of each pair moving to opposite poles.
  • The chromosomes move apart independently of other chromosome pairs.
  • For example: The copy of Chromosome 1 that an egg gets, in no way affects which out of the two possible alleles of Chromosome 5 that it gets.
17
Q

Crossing Over (Variation)

A
  • During Prophase 1 matching regions on homologous chromosomes may break and then reconnect to the other chromosome.
  • This is called CROSSING OVER and the result of having a combination of alleles is termed RECOMBINATION.
  • The point where they cross is called a CHIASMA.
18
Q

Non-Disjunction (Variation)

A
  • Non-disjunction refers to an error that occurs during the second meiotic division, that results in an abnormal number of chromosomes in the daughter cells.
  • One daughter cell may have more or less chromosomes than
    it should.
  • Usually more or less chromosomes than required will result in quite severe birth defects or often miscarriage.
  • TRISOMY – where an individual inherits and extra copy of a chromosome.
  • MONOSOMY – where an individual is missing a chromosome.
  • PARTIAL Trisomy and Monosomy can occur where and individual may have only a part extra or missing of the chromosome.
19
Q

Environment (Variation)

A
  • A personʼ’s characteristics, or phenotype, can be significantly impacted by the interaction of their genes with the environment they live in.
  • Studies have shown that epigenetic factors such as smoking, alcohol intake and exercise can actually permanently affect the phenotype of an individual without changing the genotype.