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Genetics Flashcards

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
Phenotype
Physical trait
26
Genotype
Combination of alleles
27
P Generation
Parents
28
F1 Generation
Initially crossed, children
29
Homozygous
2 identical alleles
30
Heterozygous
2 different alleles
31
Dominant
Form that always appears
32
Recessive
Only appears when 2 alleles are present
33
Test cross
Used to discover the unknown genotype of an organism. Cross the unknown type with a recessive type
34
Examples of sex-linked traits
-CVD (colourblindness) -hemophilia -adrenoleukodystrophy -SCID
35
Cytokinesis
The division of cell cytoplasm and creation of a new cell. This is important for growth and repair.
36
Mutation
A change in the genetic information passed off to offspring. Can be positive, negative or neutral
37
Mutagen
Increases rate at which mutations occur. UV radiation can cause cells to be damaged and multiply out of control.
38
Base pair substitution
Incorrect base is used when DNA is copied, changing one “letter” of the code. She was mad - she was bad
39
Frameshift mutation
1+ base pairs are added/deleted from a DNA stand
40
Deletions
Base of the DNA sequence is lost. She was mad - Shw asm ad
41
Additions
Base not in the DNA sequence is added. She was mad - she wat sma d
42
Trisomy
When a cell has an extra chromosome Ex. Down Syndrome / trisomy #21
43
Monosomy
When a cell is missing from a chromosome. Ex. Turner’s syndrome - XO
44
Polyploidy
Nucleus does not go through meiosis 2 Gametes are diploid instead of haploid
45
4 types of gene mutations
1. Base pair substitution 2. Frameshift mutations a) deletions b) additions
46
Examples of mutagens
1. UV Light 2. X-Rays 3. Tobacco products
47
Types of chromosome rearrangements (4)
1.deletion 2.duplication 3.inversion 4.translocation
48
Deletion
Some DNA is missing because part of the chromosome broke off. Ex. Cri Du Chat
49
Duplication
Gene sequence is repeated 1+ times within 1+ chromosomes. Ex. Charcot-Marie-Tooth
50
Inversion
Gene sediment becomes free from its chromosome momentarily before being reinserted in reverse order. Ex. FG Syndrome
51
Translocation
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
Types of genetic disorders (name, chromosome mutation, effects)
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
Karyotype
A photograph of pairs of homologous chromosomes in a cell. It is used to show all chromosomes, so any mutations will be shown.
54
Pedigree
A flowchart that uses many symbols to show inheritance patterns through many generations
55
Types of pedigrees
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
Types of prenatal tests
1. Amniocentesis 2. Ultrasound 3. Chorionic Villus Sampling (CVS) 4. Fetoscopy 5. Maternal Serum Screening
57
Maternal serum screening (how far along, what does it do)
16-20 weeks - available since 1993 - blood work on the mother will look for abnormal amounts of fetal proteins which might suggest defects
58
Amniocentesis
14-16 - amniotic fluid obtained and fetal cell culture and biochemical tests and/or karyotype can reveal important genetic information
59
Ultrasound
High frequency sound waves bounce off the fetus to produce an image. Many physical abnormalities can be detected this way.
60
CVS - chorionic Villus Sampling
9th week of pregnancy - fetal cells are auctioned from membrane surrounding fetus
61
Fetoscopy
Enables direct observation of the fetus - various procedures can be done with an endoscope
62
Gene therapy
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
Human genome project
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
Cloning
A process that produces identical copies of genes, cells and even organisms.

Biology (2 decks)

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