Genetics Flashcards

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1
Q

What is DNA?

A

deoxyribonucleic acid

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2
Q

What is DNA made off?

A

Sugar and Phosphate back bones and rings of Nitrogenous bases

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3
Q

What is crossing over?

A

The swapping of genetic material that occurs during Meiosis

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4
Q

What is DNA replication

A

the process in which DNA makes copies of itself

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5
Q

Steps of DNA replication

A
1 strand splits into 2 open strands (Parent Strands)
Free floating nucleotides attach to the open strands
An enzyme (DNA polymerase) matches the nucleotides to the right parent stand (A-T) (C-G)
2 new identical helixes are formed
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6
Q

What is a nucleotide

A

a combination of 1 nitrogen base (A,T,C or G), a phosphate group and a sugar, they join together to form DNA strands.

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7
Q

Who is Gregor Mendel

A

the father of genetics responsible for creating the Mendel’s laws of heredity. He was an Austrian monk who’s genius was ahead of its time which was (1822- 1884)

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8
Q

Why are Human beings known as Hybrids according to Mendel

A

they show traits of both their mother and father

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9
Q

Homozygous

A

having two identical alleles of a particular gene or genes; eg homozygous dominant: TT

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10
Q

Gregor Mendel studied 2 pure-breeding pea plant traits which were?

A

seed shape and stem length

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11
Q

Offspring means

A

1st filial generation

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12
Q

filial generation

A

a generation in a breeding experiment that is successive to a mating between parents of two distinctively different but usually relatively pure genotypes

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13
Q

N variable means

A

number of homologous pairs of chromosomes

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14
Q

What are Mendel’s 3 main laws of Heredity?

A

Law of Dominance, Law of Segregation, Law of Independent Assortment.

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15
Q

Haploid means

A

1N (not in pairs) like in gametes

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16
Q

Diploid means

A

2N (in pairs) like for humans

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17
Q

Polyploid means

A

3 or more N (in trios or more)

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18
Q

Zygote

A

a fertilized egg cell

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19
Q

Law of dominance

A

Dominant traits are expressed over recessive traits

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20
Q

Law of Segregation

A

Paired genes separate during meiosis so that each gamete possesses only one gene for a trait.

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21
Q

Law of independent assortment

A

Each gene is a unit that is inherited on its own

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22
Q

percent deviation

A

{expected - outcome} + {expected - outcome} / total tries x 100%

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23
Q

Sex chromosomes

A

XX - Girl
XY - Male
they are the 23rd pair of chromosomes

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24
Q

Autosomes

A

All other pairs of chromosomes that are not sex chromosomes (pairs 1-22)

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25
Q

Hemophilia

A

A recessive sex linked inheritance disease located on the X -chromosome that causes blood not to clot properly and affected the British royal family

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26
Q

Carriers

A

Someone who carries a recessive trait (normally disease) but does not express it due to being heterozygous

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27
Q

Karotyping

A

the process of pairing and ordering all the chromosomes of an organism, this ordering can help us detect defects

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28
Q

Color blindness

A

A recessive sex linked inheritance disease located on the X -chromosome

29
Q

Ultrasonography

A

Use of soundwave creating probe that creates images of the mothers abdomen (that is covered by a gel) on a screen to gather information about the fetus (position and anatomy)

30
Q

Amniocentesis

A

Use of a needle to collect fluids surrounding the fetus and detect the presence or absence of certain chemicals to detect genetic disorders.

31
Q

Fetoscopy

A

the insertion of a camera into the mother’s abdomen through a small incision to directly observe the fetus, skin and blood samples can also be taken through this incision

32
Q

Nondisjunction

A

Failure of chromosomes to separate during Meiosis

33
Q

Down syndrome

A

3 copies of chromosome #21 instead of 2, causes small head, short stocky body and mental challenges

34
Q

Turner syndrome

A

Only has one X chromosome instead of XX or XY
Considered female because no Y chromosome is present

It makes the female sterile, makes them shorter and causes them to have webs of skin from neck to shoulders

35
Q

Klinefelter Syndrome

A

XXY chromosome instead of XX or XY
Considered male because Y chromosome is present

Usually cause sterility and lack of sex characteristics
Long arms and legs, and lower intelligence

36
Q

Genetic disorders

A

A lethal gene that causes death

37
Q

Sickle Cell Anemia

A

A recessive gene that cause abnormal hemoglobin (a protein) and gives red blood cells a sickle shape that causes blood to not carry enough oxygen.

Higher incidence in African American population

38
Q

PKU (Phenylketenuria)

A

1 in 100k, it is recessive, causes brain damage

39
Q

Galactosemia

A

Recessive, cannot manufacture enzyme necessary to metabolize galactose into glucose, it affects the nervous system and causes death

40
Q

Tay- Sachs

A

Recessive gene, missing enzymes that break down fat, nervous system fails to develop properly, causes death usually by age 2 or 3

Higher incidence in Jewish community

41
Q

Huntington’s Disease

A

Dominant gene, On chromosome #4, certain brain cells begin to deteriorate, causes death usually within 20 years of diagnosis

Clumsy, memory problems, irritable, Uncontrollable jerking of arms & legs, loss of muscle coordination, Loss of memory and Speaking ability.

42
Q

Mutation

A

a mutation is an alteration in the nucleotide sequence of the genome of an organism

43
Q

4 types of chromosomal mutations

A

Addition (Down Syndrome), Inversion, Translocation, Duplication

44
Q

Gene mutation

A

Changes in DNA, they can be lethal (albinism in plants) or they can be helpful (adaptation)

45
Q

Causes of Gene mutation

A

Chemicals, Radiation, muller (artificially done in a lab), mutagens (substances that cause mutations)

46
Q

Monosomy

A

The absence of one member of a pair of chromosomes (Turner Syndrome)

47
Q

Trisomy

A

a chromosomal condition characterized by an additional chromosome (Down Syndrome)

48
Q

Polyploidy

A

Cells with 2 sets, creates large stems, leaves, flowers, fruits, like (larger watermelons)

49
Q

Benefits of mutation

A

agriculture (seedless grapes, short -legged sheep, double flowers)

50
Q

Genetic Engineering

A

an artificial way of combining various genes

51
Q

Benefits of Genetic Engineering

A

Medicine (Insulin {bacteria inserted with insulin gene}, Growth hormone), Agriculture (Topatoes, Brocco flower, natural pesticides, flounder protein that creates anti freeze in plants, Embryo Clevage {pass on desirable traits})

52
Q

Genetic Engineering Techniques

A

recombinant DNA, microinjection, electrical/ chemical poration, bio ballistics

53
Q

Why are humans unsuitable for genetic studies? (4)

A

Inability to be controlled by investigators, Long life span, Produce few offspring, Influenced by the environment

54
Q

4 factors that affect the Gene pool

A

death, emigration, immigration and birth

55
Q

What are demes

A

a very small group within the population that is carrying a specific gene or a population of organisms within which the exchange of genes is completely random

56
Q

Incomplete Dominance

A

a heterozygote shows the phenotype that is intermediate between the two homozygous phenotypes ( red + white = pink)

57
Q

Codominance

A

both alleles in the heterozygote express themselves fully (2 traits, like in blood types AB)

58
Q

Polygenic Trait

A

traits are controlled by 2 or more gene pairs (Eye and Hair color) 1 gene for tone of color another for distribution of pigment, etc

59
Q

Multiple allele

A

there are 3 or more alleles for a trait in the population

60
Q

Environmental effects

A

Gene expression can be influenced by the activity of other genes. Genes can also be affected by the environment both inside and outside the organism. This may enable an organism to adjust to environmental changes (Rabbit fur color) [sunlight, water, temp]

61
Q

Genetic Equilibrium

A

the constant state of allele frequency

62
Q

Conditions for Genetic Equilibrium

A

No natural selection, eg. All alleles must be equally favorable, Random mating, No migration, No significant mutation (Essentially creates a deme)

63
Q

Genetic Drift

A

an accidental change in gene frequency, eg. Fire, earthquakes, tsunamis

64
Q

Stages of Mitosis

A

Interphase - (resting period, DNA replication)
Prophase - (gets ready, nuclear envelope breaks down)
Metaphase - (Middle)
Anaphase - (Pulled apart)
Telephase - (splits into 2 different cells)

65
Q

Mitosis vs Meiosis

A

Mitosis is asexual, 2 identical cells created

Meiosis is sexual, 4 different cells created

66
Q

Inversion mutation

A

when a section of DNA breaks away from a chromosome during the reproductive process and then reattaches to the chromosome in reversed order.

67
Q

translocation mutations

A

when a piece of one chromosome breaks off and attaches to another chromosome

68
Q

duplication mutations

A

a type of mutation that involves the production of one or more copies of a gene or region of a chromosome

69
Q

4 types of gene pools

A

All the genes for a trait
All the genes in the human race
All the genes in a specific population (country)
All the genes in all living organisms