Genetics Flashcards

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1
Q

Heredity traits - by genes and by environment

A

Genes - eye colour, hair colour
Environment - mutations, cancer, autism

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2
Q

Sexual reproduction

A

Genetic diversity

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3
Q

Asexual reproduction

A

Same genetics, faster

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4
Q

Interphase (G1, S, G2)

A

G1 - cell is growing
S - DNA produced, every chromosome is copied
G2 - cell grows, centrioles begin to move

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5
Q

Prophase

A

-chromatin condenses into chromosomes
-nuclear membrane breaks down
-nucleolus disappears
-spindle fibres are formed
-centrosomes move to polar ends of the cells

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6
Q

Metaphase

A

-spindle fibres attach to centromeres
-chromosomes line up across middle of the cell

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7
Q

Anaphase

A

-centromeres split apart, splitting sister chromatids apart
-spindle fibres shorten, pulling chromosomes to polar ends of the cell

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8
Q

Telophase

A

-chromosomes start to unwind
-spindle fibres break down
-nuclear membrane forms
-nucleolus reappears within each nucleus

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9
Q

Spermatogonia

A

Process of sperm production

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10
Q

Oogonia

A

Egg production

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11
Q

Haploid

A

One copy of each gene

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12
Q

Diploid

A

Total number of chromosomes

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13
Q

Homologous

A

Chromosomes Not X or Y

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14
Q

Synapsis

A

Homologous chromosomes line up in pairs

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15
Q

Crossing over

A

Some pieces of chromosome may break off and rejoin on the other homolog

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16
Q

Reduction division

A

Meiosis 1

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17
Q

Mitosis vs. Meiosis

A

Both have interphase and PMAT 1, but meiosis has PMAT 2

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18
Q

Human chromosome numbers (homologous pairs, diploid, haploid, interphase, telophase 1, telophase 2.)

A

16 homologous pairs
18 pairs/36 chromosomes
36 diploid/18 haploid
Interphase - 72
Telophase 1 - 36
Telophase 2 - 18

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19
Q

Hippocrates’s theory of reproduction

A

Every part of the body is involved in the production of ‘seeds’
Seeds fuse together to form an offspring

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20
Q

Aristotle’s theory of reproduction

A

Male + female semen mix upon conception
Women are equal partners in the creation of an offspring

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21
Q

Van Leeuwenhoek’s theory of reproduction

A

Male sperm contains “animalcule” that is actually an embryo
Only female contribution is the influences in the uterus

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22
Q

Gregor mendal’s contributions

A

Experimented on pea plants for 8 years
Experiment is still valid today
Pea plants because they were everywhere, easy to grow, easy to control pollination, etc.

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23
Q

Allele

A

1 of 2+ forms of a gene (trait)

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24
Q

Gene

A

Part of a chromosome that governs expression of a trait
Specific DNA sequence

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25
Q

Phenotype

A

Physical trait

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26
Q

Genotype

A

Combination of alleles

27
Q

P Generation

A

Parents

28
Q

F1 Generation

A

Initially crossed, children

29
Q

Homozygous

A

2 identical alleles

30
Q

Heterozygous

A

2 different alleles

31
Q

Dominant

A

Form that always appears

32
Q

Recessive

A

Only appears when 2 alleles are present

33
Q

Test cross

A

Used to discover the unknown genotype of an organism. Cross the unknown type with a recessive type

34
Q

Examples of sex-linked traits

A

-CVD (colourblindness)
-hemophilia
-adrenoleukodystrophy
-SCID

35
Q

Cytokinesis

A

The division of cell cytoplasm and creation of a new cell. This is important for growth and repair.

36
Q

Mutation

A

A change in the genetic information passed off to offspring. Can be positive, negative or neutral

37
Q

Mutagen

A

Increases rate at which mutations occur.
UV radiation can cause cells to be damaged and multiply out of control.

38
Q

Base pair substitution

A

Incorrect base is used when DNA is copied, changing one “letter” of the code.
She was mad - she was bad

39
Q

Frameshift mutation

A

1+ base pairs are added/deleted from a DNA stand

40
Q

Deletions

A

Base of the DNA sequence is lost.
She was mad - Shw asm ad

41
Q

Additions

A

Base not in the DNA sequence is added.
She was mad - she wat sma d

42
Q

Trisomy

A

When a cell has an extra chromosome
Ex. Down Syndrome / trisomy #21

43
Q

Monosomy

A

When a cell is missing from a chromosome.
Ex. Turner’s syndrome - XO

44
Q

Polyploidy

A

Nucleus does not go through meiosis 2
Gametes are diploid instead of haploid

45
Q

4 types of gene mutations

A
  1. Base pair substitution
  2. Frameshift mutations a) deletions b) additions
46
Q

Examples of mutagens

A
  1. UV Light
  2. X-Rays
  3. Tobacco products
47
Q

Types of chromosome rearrangements (4)

A

1.deletion
2.duplication
3.inversion
4.translocation

48
Q

Deletion

A

Some DNA is missing because part of the chromosome broke off. Ex. Cri Du Chat

49
Q

Duplication

A

Gene sequence is repeated 1+ times within 1+ chromosomes. Ex. Charcot-Marie-Tooth

50
Q

Inversion

A

Gene sediment becomes free from its chromosome momentarily before being reinserted in reverse order. Ex. FG Syndrome

51
Q

Translocation

A

Part of the DNA from one chromosome becomes attached to a different chromosome in the cell or the same chromosome in the a different part. Ex. Chronic Myelogenous Leukemia

52
Q

Types of genetic disorders (name, chromosome mutation, effects)

A

Down syndrome - trisomy #21 - intellectual disabilities, abnormal pattern of palm creases, almond shaped eyes, flattened face.
Edward syndrome - trisomy #18 - intellectual disabilities, facial abnormalities, extreme muscle tone, early death
Triple X - trisomy X - tall, thin, menstrual irregularity

53
Q

Karyotype

A

A photograph of pairs of homologous chromosomes in a cell. It is used to show all chromosomes, so any mutations will be shown.

54
Q

Pedigree

A

A flowchart that uses many symbols to show inheritance patterns through many generations

55
Q

Types of pedigrees

A
  1. Autosomal recessive - both parent of an affected individual must be heterozygous, both males and females, skips generations
  2. Autosomal dominant - 1/2 of children are expected to be affected, does not skip generations, male and females
  3. X-Linker recessive - no father-to-son transmission, mainly makes affected, skips generation
56
Q

Types of prenatal tests

A
  1. Amniocentesis
  2. Ultrasound
  3. Chorionic Villus Sampling (CVS)
  4. Fetoscopy
  5. Maternal Serum Screening
57
Q

Maternal serum screening (how far along, what does it do)

A

16-20 weeks - available since 1993 - blood work on the mother will look for abnormal amounts of fetal proteins which might suggest defects

58
Q

Amniocentesis

A

14-16 - amniotic fluid obtained and fetal cell culture and biochemical tests and/or karyotype can reveal important genetic information

59
Q

Ultrasound

A

High frequency sound waves bounce off the fetus to produce an image. Many physical abnormalities can be detected this way.

60
Q

CVS - chorionic Villus Sampling

A

9th week of pregnancy - fetal cells are auctioned from membrane surrounding fetus

61
Q

Fetoscopy

A

Enables direct observation of the fetus - various procedures can be done with an endoscope

62
Q

Gene therapy

A

Involves inserting a proper working copy of a gene into the cells that lack the ability to produce their own protein.
Ex. Put the gene for insulin production into the cells of the pancreas

63
Q

Human genome project

A

A project whose goal was to determine, base by base, the DNA sequence of the human genome.
Other goals were set, like identifying all the human genes and making them available for study.

64
Q

Cloning

A

A process that produces identical copies of genes, cells and even organisms.