Mitosis, Meiosis & Inheritance Flashcards

1
Q
  • how many chromosomes are their in human cells
  • what are autosomes, how many are there?
  • in a chromosome, which is the p arm & which is the q arm?
A
  • 46 or 23 pairs (23 from each parent)
  • non sex chromosomes i.e non X or Y
  • there are 22 pairs of autosomes
  • p arm is the short arm (p for petite) & q arm is the long arm
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2
Q

How many DNA molecules in one chromosome?

Explain the differences between chromatid, chromosome & homologous chromosomes.

A
  • 1 chromosome= 1 DNA molecule
  • chromatid is one line (sometimes called a chromosome), chromosome is X (has two sister chromatids i.e identical chromatids), homologous are two Xs.
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3
Q
  • what are telomeres?
  • what is a metaphase spread?
  • define homologous chromosomes.
A
  • repeated sequences on the end of each chromosome.
  • growth is arrested in metaphase, chromosomes are stained & can view banding patterns (a&t dark, c&g light)
  • have same DNA sequence & same gene in them, may have different alleles (sister chromosomes are completely identical w same alleles but non sister chromatids have same genes w different alleles)
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4
Q

-what is mitosis, how many chromosomes at the start compared to end, what stage of the cell cycle does it happen?

A
  • cell division for somatic cells, produces 2 identical daughter cells w 2n
  • 46 at start & 46 at end (one round of replication, one round of division)
  • M phase
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5
Q

Outline the steps of mitosis.

A

P-centrosomes separating, spindle fibres created, nuclear membrane disintegrating, chromosomes condense.
PM (prometaphase)- spindles connect, centrosomes move to poles in middle of the cell
M-condensed chromosomes line up in the middle at the metaphase plate
A-chromatids or separated to opposite poles of the cell. Still called chromosomes!
T-nuclear membrane redevelops, cleavage in middle of the cell ready to split into two identical daughter cells (2n)

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6
Q

What is meiotic nondisjunction?

  • explain what happens if it takes place at the first post-zygotic division compared to a later post zygotic division
  • define mosaicism
A

-where the chromosomes are not pulled apart correctly in anaphase leading to an unequal number of chromosomes in the granddaughter cell.
Earlier (meiosis I)= leads to all 4 granddaughter cells being affected w an abnormal chromosome number.
Later (meiosis II)= Meiosis I happens successfully, separating of chromosomes in meiosis II leads to 2 granddaughter cells being normal & 2 having trisomy and monosomy
-mosaicism= lineages of cells w different chromosome number eg an individual w Downs may have some cells that have 47 chromosomes & some w 46- caused by mitotic non disjunction

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7
Q
  • what is meiosis ?

- how many chromosomes are there at the beginning & end ?

A
  • special cell division for germline cells/ sex cells, one replication & 2 divisions
  • produces for non-identical daughter cells (n) with half the chromosome content of the parental cell (2n)
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8
Q

Outline meiosis.

A

P1-centrosome separate, nuclear membrane disintegrates, homologous pairs find each other. this is where crossing over may take place- recombination, chiasmata
M1-homologous pairs lineup on the metaphase plate, form a tetrad *random assortment here, combos on how homologous chromosomes line up
A1-homologous pairs separate and are pulled to opposite poles of cell
T1- nuclear membrane appears daughter cells had 23 chromosomes in each nucleus(2n)
P2-chromosomes are condensed nuclear membrane and envelope disintegrate
M2-chromosomes line up in the middle of the cell at metaphase plate
A2-The chromatids are pulled apart
T2- The chromosomes are separated in two daughter cells with half the DNA content as parent cells.

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9
Q

What are some consequences of meiosis?

-how often does meiosis non disjunction happen?

A
  • generation of genetic diversity via crossing over (prophase 1) & random assortment (metaphase 1)
  • maintaining chromosome number through generations
  • make & female meiosis (spermatogenesis & oogenesis)
  • happens too often, causes 1/3 of all miscarriages, leading cause of mental retardation
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10
Q

Outline spermatogenesis.

A
  • start w spermatogonium (2n), -> primary spermatocyte-> x4 spermatids-> x4 mature sperm
  • from 1 spermatocyte (2n)to 4 sperm (n) in 60 days
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11
Q

Outline oogenesis.

A
  • oogonium (2n) -> primary oocyte (2n) -> large egg (n) & polar bodies (n) -> mature ovum (n)
  • happens in 12-50 years
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12
Q

Define: genotype, phenotype, gene, allele, homozygous, heterozygous, hemizygous, dominant, recessive, co-dominant.

A
  • genetic make up
  • physical characteristics
  • The stretch of DNA sequence at a specific chromosomal location that carries the code for a polypeptide
  • an alternative of a gene
  • two alleles of a gene that are the same
  • two alleles of a gene that are different
  • only one allele of the gene on the X chromosome
  • The dominant allele in a heterozygote determines the phenotype
  • The non-dominant allele in a heterozygote is called recessive
  • Neither allele in the heterozygote is dominant and the phenotype is new eg human ABO blood types
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13
Q

Give some key rules of pedigree analysis

A
  • each generation on a separate line
  • label every generation with room Roman numerals top to bottom
  • siblings in age order from left to right
  • label every individual of every generation left to right
  • shading indicates phenotype
  • half shading can indicate heterozygotes
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14
Q

Outline autosomal recessive inheritance

A
  • heterozygous unaffected
  • affected individuals are homozygotes recessive
  • 2 affected individuals will only have affected offspring
  • 2 heterozygotes have 25% chance of having affected offspring
  • males and females equally affected
  • disease seems to come out of nowhere and can skip generations
  • both parents of affected individual are heterozygous carriers
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15
Q

Outlined autosomal dominant inheritance

A
  • Heterozygotes affected
  • autosomal dominant diseases are really found in him is like a state therefore assume that affected individuals are always heterozygous
  • every affected individual has 50% chance of having affected offspring
  • males and females equally affected
  • every affected individual will have at least one affected parent
  • disease cannot skip a generation
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16
Q

Outline X linked recessive inheritance

A
  • Males and females unequally affected
  • every affected mail will have at least a heterozygous carrier mother
  • Every affected female will have an affected father and a carrier mother
  • affected males will have at least heterozygous daughters
17
Q

Outline X linked dominant inheritance

A
  • males and females equally affected
  • Hemizygous males and heterozygous females affected
  • heterozygous females have 50% chance of having affected offspring
  • affected males cannot give trait to sons
  • affected males will give all their treat to their daughters
18
Q

Outline Y-linked inheritance

A
  • only males affected
  • affected males will give trait to all their sons
  • Y linked diseases always linked to maleness
19
Q

Define mitochondrial DNA

-polygenic inheritance

A
  • mitochondrial DNA comes from the matter
  • more than one gene can be involved in producing a phenotype
  • Genes on the same chromosome I said to be linked
  • linked genes do not show independent assortment at meioses
  • recombination frequency between two linked genes is dependent on the distance between the genes- further away= more likely to cross over
  • linked genes close together are tightly linked
  • linked genes far apart on the same chromosome almost behave like unlinked genes