Genetics Flashcards

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1
Q

What does DNA stand for?

A

Deoxyribonucleic acid

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2
Q

What is the structure of the DNA?

A

Found in large, round circular chromosome in bacteria

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3
Q

Are there multiple linear DNA chromosomes in the nucleus of plant and animal cells?

True or False

A

True

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4
Q

Where else could DNA be found?

A

Inside a protein coat of a virus

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5
Q

How many chromosomes are there in the human cells?

A

46 chromosomes

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6
Q

What are monomers?

A

Monomer of DNA is a nucleotide

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7
Q

How many parts is the nucleotide made of?

A

3 parts

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8
Q

Name the 3 parts of the nucleotide

A

Five carbon sugar
Phosphate group
Nitrogenous base

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9
Q

How many parts is the nucleoside made of?

A

2 parts

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10
Q

Name the 2 parts of the nucleoside

A

Sugar(pentose)

A nitrogen base only

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11
Q

4 bases of nitrogen bases in DNA

A

Guanine
Adenosine
Cytosine
Thymine

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12
Q

What is the base pairing in DNA Double Helix?

A

A pairs with T (vice versa)

C pairs with G (vice versa)

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13
Q

DNA is folded and coiled around protein called…

A

histones—> careful packing nucleus

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14
Q

What are alleles?

A

Different variations of the same gene

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15
Q

Example of an allele

A

Trait of hair colour has various alleles such as brown, blonde, black and red hair

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16
Q

What is the result of TTGACA?

A

AACTGT

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17
Q

Process of human offspring

A

Zygote–> Embryo–> Fetus–> Infant

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18
Q

Who is known as “the father of genetics”

A

Gregor Mendel

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19
Q

Plants reproduce sexually so they undergo meiosis

True or False?

A

True

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20
Q

What are the 2 rules of the Principal of Complete Dominance?

A
  • Occurs when there are only two alleles of a single gene

- Dominant allele will mask recessive allele

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21
Q

How is theDominant Allele represented?

A

Capital Letters (T, C, A)

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22
Q

How is the Recessive Allele represented?

A

Lower Case Letters (t, c, a)

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23
Q

Homozygous Dominant

A

TT

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24
Q

Homozygous Recessive

A

tt

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25
Q

Heterozygous Dominant & Recessive

A

Tt

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26
Q

Genotype

A

‘genes’ found in the two chromosomes of an organism

- ie. TT, Tt, or tt

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27
Q

Phenotype

A

physical appearance of the organism

- ie. tall or short

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28
Q

True Breeding

A

organism that always breeds the same results without any variance

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29
Q

Purebred

A

self fertilizes to produce offspring identical to the parent

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30
Q

P1

A

Parental Generation

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31
Q

F1

A

First Filial Generation

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32
Q

What are Punnet Squares?

A
  • determine probability of having an offspring with a particular genotype and phenotype
  • calculate the chance of a particular outcome
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33
Q

Dihybrid Cross

A

inheritance of two traits

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34
Q

What is the Law of Segregation?

A

allele inherited from each parent has a 50% chance of being passed to offspring in egg/sperm/pollen cell

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35
Q

What is the Law of Independent Assortment?

A

each trait (gene) is inherited independently of others

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36
Q

Incomplete Dominance

A

neither allele is dominant instead they blend together to create a new blended phenotype

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37
Q

Codominance

A

both alleles are dominant so they can both show up togther

co–> together

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38
Q

Example of Codominance in Real Life?

A

Human Blood Types

- occurs in ABO blood groups

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39
Q

How is each blood type caused?

A

Presence of proteins called antigens on the surface of the blood cells

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40
Q

Name the 3 different antigens

A

A antigens
B antigens
no(zero) antigens

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41
Q

Are both type A and type B blood dominant over type O blood?

True or False

A

True

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42
Q

If an individual carries both type A blood and type B blood , how are the allels expressed together?

A

Type AB blood

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43
Q

How are the two dominant alleles and one recessive allele represented as?

A

Two dominant alleles: I^A and I^B

Recessive allele: i

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44
Q

Genotype of type O blood

A

ii

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45
Q

Genotype of type AB blood

A

I^A I^B

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46
Q

Genotype of type A blood

A

I^A I^A or I^Ai

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47
Q

Genotype of type B blood

A

I^B I^B or I^Bi

48
Q

Type O blood is a universal recipient

True or False

A

Flase, it is a a universal donar which can donate blood to any blood groups

49
Q

Type AB blood is a universal recipient

True or False

A

True, it can recieve blood from any blood groups

50
Q

Does type O blood have A and B antigens on the surface of its cell?

A

No, type O blood has neither A or B antigens on the surface of its cell?

51
Q

Reaction of type O blood when donated to any patient

A

No reaction with either anti A or anti B antibodies

52
Q

Reaction of type A, B or AB blood is donated to a patient with type O blood

A

Patient’s immune system will see the A, B, or AB antigens as foreign and ‘attack’ anti bodies –> causing clumping(agglutination)

53
Q

What is the 3rd type of surface antigen on red blood cells?

A

Rh factor

54
Q

What is Rh factor?

A

It determines what type of blood can be given to a patient

55
Q

If a patient is Rh positive, what does it mean?

A
  • they don’t have anti-Rh antibodies

- they can accept either positive or negative blood

56
Q

If a patient is Rh negative,

A
  • they should stick to negative blood
57
Q

How can the Rh factor affect pregnancy?

A

If mom has Rh negative, the immune system may attack the uterus if baby has Rh positive

58
Q

Sex Linked

A

Genes on the X and Y chromosomes which are called X linked or Y linked

59
Q

Autosomes

A

22 pairs of non-sex chromosomes that contain genes for anything that does not relate to sex determination

60
Q

Karyotype

A

Image of a person’s chromosomes under a microscope

61
Q

It is the mother’s egg determines the sex of the offspring?

True or False

A

False, it is the father’s sperm that determines the sex of the offspring
Male–> XY

62
Q

X-linked traits

A

-carried on the x chromosome

63
Q

If x-linked trait is recessive

A
  • females carry a second X chromosome
  • do not express the trait
  • mothers–> carriers of the disorders
64
Q

What is Hemophilia?

A

A disease caused by a recessive X linked gene. It has an inability to properly clot blood

65
Q

Example of Hemophila

A

small cut or bruise–> uncontrolled bleeding–> can be fatal

66
Q

Hemophilia is also referred as…

A

“The Royal Disease”

67
Q

Hemophilia indicated as…

A

X^h

68
Q

X^H

A

Normal–> dominant allele

69
Q

X^h

A

Hemophilia–> recessive allele

70
Q

Pedigree

A

Chart showing the lineage of family members

71
Q

Huntington’s disease

A

A progressive brain disorder caused by a defective gene. Results in the death of brain cells

72
Q

Huntington’s disease also known as….

A

Huntington’s Chorea

73
Q

What drugs are given to control the movement of the Huntington’s disease?

A

Anti psychotics

74
Q

What is the probability of inheriting the gene of the Huntington’s disease?

A

50% chance of inheriting the gene from affected parent and since its dominant, one mutant copy is enough to give you the disease

75
Q

When do the symptoms of the Huntington’s disease arise?

A

After the age of 35 to 44

76
Q

Can the Huntington’s disease symptoms arise in childhood?

A

Yes, symptoms may also arise in childhood itself if repeat count is very high

77
Q

What are the two major types of genetic disorders?

A

Mutations and Nondisjunction errors

78
Q

Mutations

A

Errors in DNA itself

79
Q

Nondisjuction errors

A

when meiotic process is completed abnormally

80
Q

Gene

A

Portion of the DNA molecule found on a chromosome

81
Q

What is the function of a gene?

A

Codes for a single polypeptide

82
Q

Polypeptide

A

Chain of amino acids

83
Q

Point Mutations

A

An error at a single point in the DNA

84
Q

State the 3 reasons why point mutation may occur

A
  • deletion of a base pair
  • shifting of a base pair, cause by inserting or deleting a nucleotide(frame shift)
  • substitution of a base pair
85
Q

Example of Point Mutation

A

Sickle Cell Anemia

86
Q

Sickle Cell Anemia

A

Error in DNA which results in all blood cells(red) taking on an irregular curved shape(sickle shape)

87
Q

Name the 5 other types of mutations that also occur on chromosomes

A
Duplication
Inversion
Deletion
Insertion
Translocation
88
Q

Duplication

A

A part of chromosome is duplicated more than one time

89
Q

Inversion

A

A part of chromosome is inverted on the same chromosome so the genes on that segment are in a different location

90
Q

Deletion

A

A part of chromosome is missing

91
Q

Insertion

A

A part of chromosome is inserted onto another chromosome

92
Q

Translocation

A

A part of chromosome is translocated to the end of another chromosome

93
Q

Nondisjunction

A

An error that occurs in meiosis. Individual chromosomes moving to different cells

94
Q

Chromosomal Disorder

A

Person’s cells do not have the correct number of chromosomes

95
Q

Name the 4 major disorders caused by nondisjunction

A

Down’s Syndrome
Klinefelter Syndrome
Turner Syndrome
Edward Syndrome

96
Q

How is Down Syndrome caused ?

A

By the prescence of an extra chromosome 21

97
Q

6 Clinical Characteristics of Down Syndrome

A
  • poor muscle tone
  • short and broad hands with single crease across palm on one or both hands
  • slanting eyes with folds of skin at inner corners
  • broad feet with short toes
  • flat bridge of the nose
  • small head and mouth
98
Q

How is Klinefelter Syndrome caused?

A

A male has two X chromosome and one Y chromosome

99
Q

When do the symptoms become apparent for Klinefelter Syndrome?

A

In puberty, when secondary sexual characteristics fail to develope(develop late)

100
Q

How does the Klinefelter Syndrome affect a male?

A

Testicular changes occur that eventually result in infertility for majority of those affected

101
Q

Treatment of Klinefelter Syndrome

A

They should be treated with testosterone, usually at the age of 11 or 12 years of age or after the mentioned age

102
Q

How is Turner Syndrome caused?

A

A female lacks one or a part of one of the X chromosomes

103
Q

9 Symptoms of Turner Syndrome

A
  • short stature - lack of breasts - no periods
  • a webbed neck - infertility - diabetes
  • undeveloped ovaries
  • increased rist of heart disease - osteoporosis
104
Q

Treatment of Turner Syndrome

A

Treated with growth hormones and estrogen therapy

105
Q

How is Edward Syndrome caused?

A

Person’s cells have three copies of chromosome 18

106
Q

Symptoms of Edward Syndrome

A

Severe intellectual disabilities and their skeletons are malformed

107
Q

Disadvantage of Edward Syndrome

A

Most people with this syndrome die in infancy

108
Q

Genome

A

Total genetic information

109
Q

Reproductive Technology

A

The use of technology to assit or enhance reproduction in humans or other organisms

110
Q

Process of Superovulation

A
  • mom injects hormones to cause maturation and release of more than one egg
  • multiple injections over days required to trigger many follicles to mature
111
Q

Process of Artificial Insemination

A

Partner’s or donor’s sperm injected into vagina

112
Q

Process of Intrauterine Sperm Injection

A
  • partner’s or donor’s sperm injected directly into uterus

- bypass difficult journey through cervical mucus

113
Q

Process of In Vitro Fertilization (IVF)

A
  • mother’s ovaries stimulated to super ovulate (hormone injections)
  • eggs are retrieved from both ovaries using a long thin needle and ultrasound to provide technician with visualization
  • sperm extracted and combined with eggs in petri dish in laboratory
  • multiple zygotes (fertilized eggs) are created
  • zygotes are watched closely for signs of healthy cell division
  • only two or three healthy dividing embryos are inserted into Mom’s unterus (one injected with hormones to prepare her body for pregnancy)
  • possible fraternal (dizygotic) twins or triplets could result if more than one embryo implants
114
Q

Process of Intracytoplasmic Sperm Injection (ICSI)

A
  • sperm is injected directly into egg
  • useful for sperm that have difficulty dissolving the later surrounding the egg, the “zona pellucida” and penetrating the egg’s cell membrane
115
Q

Process of Pre -implantation Diagnostic Testing (PGD)

A
  • 5 or 6 days afte in vitro fertilization, a biopsy of the dividing embryo is performed, where a small sample of cells is removed
  • these cells are tested for the ‘condition of interest’ and the embryos predicted to be unaffected are transferred to the woman’s uterus
116
Q

Goal of Cytoplasmic Transfer

A

Providing new mitchondria to egg

117
Q

What age group is the Cytoplasmic Transfer helpful to?

A

Helpful for mother who are older (45+) and embryos are less viable due to insufficient mitochondria in egg