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BIOL-L 112 Exam 2 > Genetics > Flashcards

Genetics Flashcards

1
Q

Genetics definition

A

The scientific study of heredity

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2
Q

Heredity definition

A

The transmission of trait from one generation to the next.

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3
Q

Who was the first person to analyze patterns of inheritance?

A

G. Mendel

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4
Q

Why did G Mendel study garden peas?

A 
They were easy to grow
Came in many varieties
Easily manipulated
Can self Fertilize
Readily available
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5
Q

Importance of G. Mendel studying peas?

A

Deduced fundamentals of genetics

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6
Q

Monohybrid Cross definition

A

A cross between purebred parent plants that differ in only one character/trait

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7
Q

What are Hybrids?

A

The offspring of two different purebred varieties

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8
Q

Parental plants are the ___ generation

A

P

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9
Q

Parents hybrid offsprings are the ____ offsprings

A

F1

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10
Q

Across of the F1 plants form the ____ generation

A

F2

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11
Q

Phenotype definition

A

An organism’s physical appearance

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12
Q

Genotype definition

A

An organisms genetic makeup

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13
Q

Mendel developed how many hypotheses from the monohybrid cross

A

4 Hypotheses

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14
Q

Mendel Hypotheses from Monohybrid Cross (1)

A

The alternative version of genes are called alleles

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15
Q

Mendel Hypotheses from Monohybrid Cross (2)

A

For each inherited character, organism inherits two alleles, one from each parent. Can be Homozygous or Heterozygous

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16
Q

Homozygous definition

A

An organism is homozygous for that gene if both alleles are identical

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17
Q

Heterozygous Definition

A

AN organism is heterozygous for that gene if the alleles are different

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18
Q

Mendel Hypotheses from Monohybrid Cross (3)

A

If two alleles of inherited pair differ,

  1. ) one determines organism’s appearance and is called dominant allele
  2. ) Not relevant, is called recessive allele.
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19
Q

Mendel Hypotheses from Monohybrid Cross (4)

A

Each organism contains two alleles for each trait and the alleles segregate (separate_ during the formation of gametes. This is called the Law of Segregation

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20
Q

Gene Locus definition

A

A specific location of a gene along a chromosome

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21
Q

Can they have multiple alleles of a gene at the same locus?

A

Yes, Homologous chromosomes have alleles of a gene at the same locus

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22
Q

What does a genotype of PP get you?

A

Homozygous for the dominant allele

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23
Q

What does a genotype of aa get you?

A

Homozygous for the recessive allele

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24
Q

What does a geotype of Bb get you?

A

Heterozygous, with one dominant and one recessive allele

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25
Q

Rules of Probability

A

Apply to the inheritance of single gene traits. If genotypes of parents, it is possible to establish a childs chances for inheriting a particular genotype and thus for having a particular trait

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26
Q

Punnet Square Highligts

A

Four possible combination of gametes and the four possible offspring are in the F2 generation

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27
Q

In a normal Punnet Square, how many PP would you get?

A

One

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28
Q

In a normal Punnet Square, how many Pp would you get?

A

Two

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29
Q

In a normal Punnet Square, how many pp would you get?

A

One

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30
Q

Dihybrid Cross

A

The mating of parental varieties differing in two characters

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31
Q

What would result from a dihybrid cross?

A

Dependent Assortment

Independent Assortment

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32
Q

Law of Segregation

A

During gamete formation, the alleles of each gene segregate from each other so that each gamete caries only one allele for each gene

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33
Q

Law of Independent Assortment

A

Genes for different traits can segregate independently of the other genes during the formation of gametes

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34
Q

Testcross

A

Is a mating between an individual of dominant phenotype (but unknown genotype (Bb or BB?) and a homozygous recessive individual.

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35
Q

Example of Family Pedigree, Mendel’s Principles on the inheritance of many human traits

A 
Earlobe Attachment
Toungue Rolling
Dimples
Handednes
Freckles
Curly-Straight Hair
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36
Q

Dominant TRaits are not necessarily

A

Normal or More Common

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37
Q

Wild-Type traits are

A

typical form as it occurs most often in nature and not necessarily specified by dominant alleles

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38
Q

How can inbreeding occur?

A

Prolonged geographic isoloation of certain populations can lead to this, through the mating of close relatives

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39
Q

Why can inbreeding by harmful?

A

Inbreeding increases the chance of offspring that are homozygous for a harmful recessive trait

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40
Q

Many human traits show..

A

simple inheritance patterns and are controlled by a single gene of autosomes

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41
Q

Most human genetic disorders are ____

A

Recessive

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42
Q

How can someone be a carrier of a disorder

A

Individuals who have the recessive allele but appear normal are carriers of the disorder

43
Q

Lethel Recesive; what if you have aa?

A

You are affected

44
Q

Lethel Recesive; what if you have Aa?

A

You are a carrier

45
Q

Lethel Recesive; what if you have AA?

A

You are normal

46
Q

What falls under Lethal Recessive

A

PKU
Sickle Cell Anemia
Tay Sachs
Cystic Fibrosis

47
Q

Lethal Dominant; what if you have aa?

A

You are normal

48
Q

Lethal Dominant; what if you have Aa?

A

You are affected

49
Q

Lethal Dominant; what if you have AA?

A

You are affected

50
Q

What falls under Lethal Dominant

A

Huntingtons Disease
Neurofibromatosis
Brachy/Polydactyly
Marfan’s Syndrome

51
Q

(R) Albinism

A

Lack of pigment in skin, hair, and eyes

52
Q

(R) Cystic Fibrosis

A

Excess mucus in lungs, digestive tract, liber; increased suspectibility to infections, death in early childhood

53
Q

(R) Phenyketonuria (PKU)

A

Accumation of phenylalanine in blood; lack of normal skin pigment, Mental Retardation unless trated

54
Q

Diseases more common among certain ethnic groups

A

There is no referenence to discrimination, can run in certain groups

55
Q

(R) Sickle-Cell Disease

A

Sickled red blood cells; damage to many tissues

56
Q

(R) Tay Sachs Disease

A

Lipid accumulation in brain cells; mental deficiency; blindness; death in childhood

57
Q

(D) Achondroplasia

A

Dwarfism

58
Q

(D) Alzheimers Disease

A

Mental Deterioration; Usually strikes late in life

59
Q

(D) Hungintons Disease

A

Mental Deterioration and uncontrollable movements; strikes in middle age

60
Q

(D) Hypercholesterolemia

A

Excess Cholesterol in blood; heart disease

61
Q

PKU Symptoms ; Deficiency on Phe Hydroxylase

A

An enzyme needed to conver essential amino acid phe to tyr

62
Q

PKU Symptoms; Phenylacetate Accumulation

A

Progessive intellectual disabilities or mental retardation until puberty

63
Q

PKU Symptoms

A 
Seizures
Tremors or Jerky Hand/Leg
Hyperactivity, stunted growth
Eczema
Distinct odor in breath, skin, or urine. 
Orange urine
Lighter Skin
64
Q

High Phenylanine Foods

A 
Fish
Beans
Dairy
Diet Soda
What
Eggs
Nuts & Legumes
Meat
65
Q

Low Phenylanine Foods

A 
Most Vegetables
Sugars
Low-Protein
Most Fruit
Special Breaks/Cookies/Crackers
66
Q

Cystic Fibrosis

A

Most common lethal genetic disease USA.

Caused by a recessive allele carried by about 1/31 Americans.

67
Q

How does Cystic Fibrosis work

A

Impaired transport of CL- ions in lungs
Asthma
Salty Skin, “big” appetite
Large Greasy stools

68
Q

Achondroplasia

A

Is a form of dwarfism

69
Q

Achondroplasia works how?

A

Homozygous dominant genotype causes death of the embryo. Thus the only heterozygotes have this disorder

70
Q

Huntingtons disease

A

Leads to the degeneration of the nervous system, does not usually begin until middle age.

71
Q

Huntingtons Disease details

A

Causes involuntary movements

Causes degeneration in many regions of the brain and spinal cord

72
Q

What faulty gene causes Huntingtons Disease

A

Cause by a fauly gene for a protein called Huntingtin

73
Q

What are the chances of getting Huntingtons if your parents has it?

A

You have a 50% chance of inheriting it

74
Q

Huntingtons Disease appear when?

A

Symptoms manifested at a middle age = family planning problems

75
Q

Marfan Syndrome - Autosomal Dominant

A 
Range of Symptoms
Disorder of human CT
DEfects of Heart Valves
Affect lungs, eyes, skeleton
Tall, long limbs, thin fingers
Scoliosis
Flat Feet
Crowded teeth
76
Q

Polydactyly - Autosomal Dominant

A

Having extra fingers growing on a hand

77
Q

Brachydactyly - Autosomal Dominant

A

Shortening of fingers & toes

78
Q

Neurofibromatosis

A

Tumor Disorder; Tumors along the nervous sytem. Scoliosis, learning disabilities, vision disorder, epilepsy

79
Q

Proteus Syndrome

A

(Elephant Man) ; Mutation in Neurobibromin (Involved in RAS pathway)

80
Q

Progeria - Autosomal Dominant

A

Accelerated Aging

81
Q

Amniocentesis ; Genetic Test Performed During Pregnancy

A

Collects cells from amniotic fluid

82
Q

Chorionic Villus Sampling; Pregnancy Test Performed During Pregnancy

A

Removes cell from placental tissue

83
Q

What happens in Incomplete Dominance?

A

F1 hybrids have an appearance between the phenotype of the two parents

84
Q

What happens in Hypercholesterolemia? (Codominant)

A

Heterozygotes have blood cholesterol levels about twice as normal. About five times the normal amount of blood cholesterol. Heart attacks as early as 2

85
Q

ABO Blood Groups

A

Humans blood groups have three alleles. IA, IB, & i

86
Q

ABO Blood Groups info

A

More than 2 alleles of a gene are present in the population

An individual can have only two of the many alleles for each trait

87
Q

Polygenic Inheritance

A

The additive effects of two or more genes on a single phenotype

88
Q

Role of Environment and Genetics

A

Human characters a result from a combination of heredity and environment. Only genetic influences are inherited.

89
Q

Linked Genes

A

Are located close together on a chromosome and tend to be inherited together

90
Q

Thomas Hunt Morgan

A

Used the fruit fly Drosophila Melaogaster

Determined that some genes were linked based on the inheritance patterns of their traits

91
Q

Sex Chromosomes for male?

A

XY

92
Q

Sex chromosomes for females?

A

XX

93
Q

Sex-Linked Gene

A

Any gene that is located on a sex chromosome

94
Q

Where are most sex-linked genes found?

A

On the X Chromosome

95
Q

Sex linked genes exhibit ______

A

unusual patterns of inheritance.

Examples include color blindness, hemophilia, Duchenne Muscular Dystrophy

96
Q

Red-Green Colorblindness

A

A common human sex-linked disorder and caused by a malfunction of light-sensitive cells in the eyes

97
Q

Sex linked traits are expressed more frequently in which gender?

A

Males, due to the fact that genes are located exclusively on the X chromosome

98
Q

A female will be color blind if she recives the recessive color blind gene ____

A

blind gene on both Xs

99
Q

A male will be color blind if he receives the recessive color blind gene on ____

A

one X Chromosome

100
Q

Hemophilia

A

Is a sex-linked resessive blood-clotting trait that may result in excessive bleeding and perhaps death after minor cuts.

101
Q

How many different factors come into affect with clotting?

A

13

102
Q

Autosomal Trait

A

Is expressed differently in males and females

103
Q

Male Pattern Baldness

A

Trait influenced by Dihydroxy TEstosterone and Androgen Receptor Gene on X.

BIOL-L 112 Exam 2 (5 decks)

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