Chapter 3 Flashcards

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1
Q

Explain what happens after conception

A

A sperm cell penetrates the lining of the ovum and fertilizes it. Then that sperm delivers its genetic material that fuses with the ovum’s genetic material, creating a new cell => the zygote

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2
Q

What does the zygote consist of (in its nucleus)

A

The zygote contains 46 chromosomes ⇒ 23 from each parent

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3
Q

What does the chromosome consist of

A

Each chromosome (all 46) consist of thousands of genes

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4
Q

What are genes

A
  • Genes are the basic units of heredity
  • Most genes create protein to regulate cells
  • Genes make up our DNA
  • Genes call for production of amino acids → forms enzymes and protein → formation and functioning of new cells
  • Genes dictate what developments occur by manipulating cells and telling them what should develop

Genes are basic unit of heredity that occupy a specific location on a chromosome. Most genes code for a specific protein or segment of protein leading to a particular characteristic or function.

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5
Q

What is DNA

A
  • DNA stands for deoxyribonucleic acid
  • DNA contains all genetic information needed for the development & function of an organism
  • DNA is the blueprint that allows you to develop to who you are
  • DNA has the ability to duplicate itself. It does so by spitting in the middle, opening like a zipper. Then each remaining half of the molecule guides the replication of its missing parts. This special ability of DNA to replicate itself is how a one-celled zygote can develop into a complex human being.
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6
Q

What is a genotype

A

The genetic profile you inherit from parents that makes you who you are
The genetic contribution to the phenotype is called the genotype

Genotype = your blueprint

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7
Q

What route does the zygote take

A

The zygote moves through the fallopian tube toward its prenatal home in the uterus, it begins to replicate itself through the process of mitosis

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8
Q

What is mitosis and its goal

A

The process in which a cell duplicates its chromosomes and then divides into two genetically identical daughter cells

The goal is to have an exact copy of the original cell. You start with 46 chromosomes and end with 46 chromosomes
Each cell is genetically identical

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9
Q

Briefly explain the process of mitosis

A

1 - There is an original parent cell which has 46 chromosomes

2 - Each chromosome splits down the middle making a duplicate

3 - The duplicate sets of chromosomes move to opposite ends of the parent cell which begins to divide

4 - The cell completes its division, producing two daughter cells that have identical sets of chromosomes
Each cell is genetically identical

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10
Q

What is meiosis and its goal

A

The process in which a germ cell divides, producing gametes (sperm or ova) that each contain half of the parent cell’s original complement of chromosomes; in humans, the products of meiosis contain 23 chromosomes.

To produce unique genes that you will pass on to the new generation

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11
Q

Briefly explain the process of meiosis

A

1 - There is a germ cell that contains 46 chromosomes

2- The germ cell’s original chromosomes duplicates itself, and the duplicate remains attached

3 - Crossing-over takes place among adjacent chromosomes, thus creating new hereditary combinations

4 - The original cell divides to form 2 parent cells, each of which has 23 duplicated chromosomes

5 - Each chromosome and its duplicate split into separate gametes → each gamete has only half the chromosomes of its parent cell

Starts with 46 but ends in 23 diff chromosomes

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12
Q

What determines the sex

A

Germ cells

Also, you have 23 pairs of chromosomes (46 chromosomes), 22 of those are for your body but the last one determines your sex

If it is a male => the 23rd chromosome will have an XY

If it is female => the 23rd chromosome will have an XX

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13
Q

What are gametes

A

Gametes are an organism’s reproductive cells. They are also referred to as sex cells. Female gametes are called ova or egg cells, and male gametes are called sperm.

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14
Q

How are gametes produced

A

Through meiosis

If it is a male = sperm produced
If it is female = ova produced

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15
Q

How come siblings with the same parents look different

A

Since human germ cells contain 23 chromosome pairs, each of which is isolated independently of the others, the laws of probability tell us that each parent can produce 2^23 (more than 8 million) different genetic combinations in his sperm or her ova. If a father can produce 8 million combinations of 23 chromosomes and a mother can produce 8 million, any couple could theoretically have 64 trillion babies without producing two children who inherited precisely the same set of genes!

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16
Q

How are identical twins made

A

Occasionally, a zygote will split into separate but identical cells, which then become two individuals. These are called monozygotic (or identical) twins because they have developed from a single zygote (“mono” means “single”) and have identical genes.

Once the sperm wins race and enters the fallopian tubes it creates two identical zygotes which creates identical twins

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17
Q

How are fraternal twins made

A

More common are dizygotic (or fraternal) twins—pairs that result when a mother releases two ova at the same time and each is fertilized by a different sperm. Even though fraternal twins are born together, they have no more genes in common than any other pair of siblings. Fraternal twins often differ considerably in appearance and need not even be the same sex.

The sperm enters the fallopian tubes → but ends up releasing two eggs fertilized by two diff sperms → fraternal twins

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18
Q

What is a phenotype

A

A phenotype is an individual’s observable traits, such as height, eye color, and blood type

What you end up looking like

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19
Q

What do genes do

A
  • Genes call for the production of amino acids which forms enzymes and other proteins that are necessary for the formation and function of new cells
  • Genes regulate the pacing and timing of development → Dictate when development occurs by manipulating and telling cells to do different things
  • Genes guide cell differentiation, making some cells part of the brain/CNS, parts of the circulatory system, bones, skin, etc
  • Produce proteins that do many things like regulate the production of pigment called melanin in the iris of the eye → people with brown eyes have genes that have all for high levels of this pigment whereas people with blue or green eyes have genes that call for less pigmentation
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20
Q

What are genomes

A

A genome is an organism’s complete set of genetic instructions/genes

What the human genome project tried to map out

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21
Q

What are experience expectant interactions

A

(We expect) Each of us as a species (to) interact with the environment

The average or normal environment provides infants with the necessary input to develop the neural connections to enable the baby to function across visual, hearing, social and emotional development, language and higher cognitive functions.

Ex:
Stimulation → interact with our world to produce cells in our brain to grow
Languages → Our interaction with the environment in childhood, ie: hearing people speak languages, allow the child to be able to speak those languages later in life. This is because the cells in our brain will react to this interaction in childhood by creating language centers in the brain. Moreover, it will produce the correct muscles in our jaws/mouth in general to be able to produce the correct noises in the language we speak.

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22
Q

What are experience dependent interactions

A

Term for how our environment interacts with our genes to produce things that are not expected

The environment interacts with the genes to produce a phenotype that is not matching with what the genotype was supposed to be

Experience dependent example

Your blueprint (genes) has you planned to be 6ft and 200 lbs but you’re in a war torn country where food is hard to get = you won’t grow to be that

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23
Q

What are alleles

A

An allele is one of two or more versions of a gene

Alternative forms of a gene at a particular site on a chromosome

Alleles exist in pairs → one comes from dad and one from mom
Alleles aren’t always equal → one can dominate the other

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24
Q

What is a dominant allele

A

A gene that is expressed phenotypically and masks the effect of a less powerful gene

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25
Q

Give examples of a few dominant traits

A
  • Dark hair
  • Curly hair
  • Pigmented skin
  • Type A blood
  • Facial dimples
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26
Q

What is a recessive allele

A

A less powerful gene that is not expressed phenotypically when paired with a dominant allele

27
Q

Give examples of a few recessive traits

A
  • Blond hair
  • Straight hair
  • Albinism
  • Type O blood
  • No dimples
28
Q

What is simple dominant-recessive inheritance

A

Simple dominant-recessive inheritance is a pattern of inheritance in which one allele dominates another so that only the dominant phenotype is expressed

29
Q

Who played a big role in understanding the concept of dominant and recessive alleles

A

Gregor Mendel who cross bred different peas and observed the outcomes

30
Q

Give an example of simple dominant-recessive inheritance

A

About three-quarters of us have the ability to see distant objects clearly (i.e., normal vision) whereas the remaining one-fourth of us cannot and are myopic (nearsighted). The gene associated with normal vision is a dominant allele. A weaker gene calling for nearsightedness is a recessive allele. So a person who inherits one allele for normal vision and one allele for myopia would display a phenotype of normal vision because the normal-vision gene overpowers (i.e., dominates) the nearsightedness gene.

31
Q

Define homozygous

A

If two alleles are homozygous, they are both dominant or both recessive

Ex:
N = normal vision
n = nearsightedness

NN
nn

32
Q

Define heterozygous

A

If two alleles are heterozygous, one is dominant and one is recessive

Ex:

N = normal vision 
n = nearsightedness

Nn

33
Q

What is codominance

A

When the phenotype compromise between two dominant genes

Condition in which two heterozygous but equally powerful alleles produce a phenotype in which both genes are fully and equally expressed

Two dominant genes interact → blood type: AB

34
Q

What is incomplete dominance

A

Incomplete dominance is when a dominant allele, does not completely mask the effects of a recessive allele, and the organism’s resulting physical appearance shows a blending of both alleles

Incomplete dominance is when half the heterozygous allele is stronger than the other

35
Q

Give an example of incomplete dominance

A

Some people are heterozygous for the sickle cell attribute and carry a recessive “sickle cell” allele. The presence of this one sickle cell gene causes some of the person’s red blood cells to assume an unusual crescent, or sickle, shape and these blood cells distribute less oxygen throughout the circulatory system. The consequences are much more severe for those who inherit two recessive sickle cell genes and develop a severe blood disorder, called sickle cell anemia, that causes massive sickling of red blood cells and inefficient distribution of oxygen at all times.

36
Q

What are sex-linked characteristics

A

A characteristic determined by a recessive gene that appears on the X chromosome; more likely to characterize males

37
Q

Give an example of a sex linked characteristic

A

Many people cannot distinguish red from green, an inability caused by a recessive gene that appears only on X chromosomes, this is known as colour blindness. This is more common in men since a normal male has only one X chromosome. If this X chromosome carries a recessive gene for colour blindness, the male will be colour blind because there is no corresponding gene on his Y chromosome that might counteract the effect of this “colour-blind” allele. A genetic female who inherits only one gene for colour blindness will not be colour blind because the colour-normal gene on her second X chromosome will dominate the colorblind gene, enabling her to distinguish red from green. So a female cannot be colour blind unless both of her X chromosomes contain a recessive gene for colour blindness.

38
Q

What are polygenic traits/polygenic inheritance

A

A characteristic that is influenced by the action of many genes rather than a single pair
Most important human characteristics are influenced by polygenic traits

As we increase the gene combinations the characteristics that come to be will follow a normal curve (average height, weight, etc)

39
Q

Give examples of polygenic traits

A
Height
Weight
Intelligence
Skin colour 
Temperament
Susceptibility to cancer
40
Q

What is a congenital defect

A

A problem that is present (though not noticeable) at birth; such defects may stem from genetic and prenatal influences or from complications of the birth process

41
Q

What are chromosomal abnormalities

A

Chromosomal abnormalities occur when a germ cell divides during meiosis, and the distribution of its 46 chromosomes into sperm or ova is sometimes uneven. In other words, one of the resulting gametes may have too many chromosomes, while the other has too few.
This can occur on sex chromosomes or body cells

42
Q

Give examples of female chromosomal abnormalities

A
  • Turner syndrome => X
    Happens where there aren’t enough X chromosomes
    Effects:
  • Underdeveloped secondary sex characteristics (stunted pubertal development, underdeveloped breasts, etc)
  • They are sterile (unable to reproduce)
  • Normal verbal intelligence but often score below average on tests of spatial abilities such as puzzles
- Poly-X syndrome => XXX
Happens when the female has too many X chromosomes (XXX,XXXX, or XXXXX)
Effects:
- Phenotypically female appearance 
- They are fertile (can reproduce) 
- IQ deficiency
43
Q

Give examples of male chromosomal abnormalities

A
  • Klinefelter syndrome => XXY; XXXY
    Happens when they have too many X chromosomes but only one Y
    Effects:
  • Phenotypically male with some female secondary sex characteristics (boobs and big hips) coming at puberty and are taller than typical XY males
  • Fertile but have underdeveloped testes
  • Low IQ
  • Supermale syndrome => XYY, XYYY, XYYYY
    Happens when they have too many Y chromosomes but only one X
    Effects:
  • Phenotypic males who are taller than typical (XY) males, have large teeth, develop severe acne during adolescence, deeper voices
  • Fertile but have abnormally low sperm count
  • Normal IQ and are not more aggressive or violent than typical males => book; presentation: IQ deficit
44
Q

Give an example and explain a autosomal abnormality

A

Autosomal abnormalities occur due to a defect in the number or structure of autosomes/chromosomes

The most common autosome is Down syndrome which is a condition in which the child inherits all or part of an extra 21st chromosome.
Effects of DS:
- Intellectual disability
- Congenital ear, eye and heart defects
- Distinct features such as sloping forehead, protruding tongue, short limbs, slightly flattened nose, and almond shaped eyes
- Reach same developmental milestones as typical children but at a slower pace

45
Q

What are genetic abnormalities

A

Genetic abnormalities are conditions caused by changes to the genes or chromosomes

They come if you inherit a recessive gene from both parents

46
Q

Give an example of a genetic abnormality that primarily affects the lungs and is caused due to recessive alleles

A

Cystic fibrosis (CF)
Only appears if both parents carry recessive AND child inherits specific gene from each parent which causes the thickening of bodily fluids that are typically thin (mainly mucus, but also sweat)
Effect:
Obstruction of lungs → difficulty breathing

47
Q

Give an example of a genetic abnormality that primarily affects the nervous system and is caused by dominant alleles

A
Huntington's disease 
Parents who give birth to children with Huntington's disease are aware and are manifesting the disorder
In this disease, the individual has a gradual deterioration of the nervous system, leading to a progressive decline in physical and mental abilities and ultimately death. It is present from conception but this disease will not appear until much later (like 30s or 40s)
It affects the HTT gene on Chromosome 4 
Effect:
- Can't remember stuff
- Can't regulate emotions 
- Affects control of movements
- Speech disabilities 
- ALL ASPECTS OF NS
48
Q

What is a mutation

A

A mutation is a change in the chemical structure or arrangement of one or more genes that has the effect of producing a new phenotype
It can occur spontaneously or induced by environmental chemicals (Thalidomide => drug given to women for morning sickness)

49
Q

Are there any positive side effects to mutations

A

Yes, for example, sickle cell anemia is more resistant to malaria

Individuals who live in areas that has malaria (africa, etc) are more likely to have sickle cell anemia to help them survive the malaria

50
Q

What is genetic counselling

A

Genetic counselling is a service designed to inform prospective parents about genetic diseases and to help them determine the likelihood that they would transmit such disorders to their children

They do this by taking a DNA sample of the parents and testing it

51
Q

Name the methods through which one can detect hereditary disorders

A
  • Amniocentesis
  • Chronic Villus Sampling (CVS)
  • Non-invasive prenatal testing (NIPT)
  • Ultrasound
52
Q

Explain Amniocentesis

A

Amniocentesis is a method through which one can detect any disorders in which they extract amniotic fluid from a pregnant woman so that fetal body cells within the fluid can be tested for chromosomal abnormalities and other genetic defects
It has a low risk of miscarriage but is reserved for special uses only

Through this test they can tell the:

  • Sex
  • Chromosomal abnormalities, ex: down syndrome
  • Genetic disorders, ex: diabetes, tay-sachs, etc
53
Q

Explain Chronic Villus Sampling (CVS)

A

Chronic villus sampling is an alternative to amniocentesis in which fetal cells are extracted from the placenta for prenatal tests. The needle is put through the vagina, cervix or abdomen to remove cells from chorion. CVS can be performed earlier in pregnancy than is possible with amniocentesis but has a high risk of abnormality so it is only reserved for if there is a high risk of abnormality

54
Q

Explain Ultrasound

A

Ultrasound is a method of detecting gross physical abnormalities by scanning the womb with sound waves, thereby producing a visual outline of the fetus
It can tell the age, sex and gross physical disabilities → missing limb, etc
It can’t genetic or chromosomal abnormalities
Happens at 14 weeks

55
Q

Name the methods through which you can treat disorders before birth

A
  • Drug or hormones sent to fetus
  • Bone marrow transplants
  • Surgery → laser surgery that can precisely attack certain things
56
Q

Name the methods through which you can treat disorders after birth (during infancy)

A
  • Diet → Used to treat metabolic disorders or diabetes)
    Swap natural milk with other manufactured ways to give child protein when they cannot process it properly
  • Hormone therapy → For infants with Turner syndrome, etc (add testosterone, etc)
  • Transfusions → Used to treat blood disorders
57
Q

What is selective breeding

A

It is a method of studying genetic influences by determining whether traits can be bred in animals through selective mating

58
Q

What is heritability

A

Heritability is the amount of variability in a trait that is attributable to hereditary factors/influence

59
Q

What is a twin design/study

A

It is a study in which sets of twins that differ in kinship (the extent to which two individuals have genes in common) are compared to determine the heritability of an attribute

If genes affect the attribute(s) in question, then identical twins should be more similar, for they have 100% of their genes in common (kinship = 1.00), whereas fraternal twins share only 50% (kinship = 0.50). An interesting twist on this design is to compare identical twins reared in the same household with identical twins reared apart. The kinship of all pairs of identical twins reared together or apart, is 1.00. So if identical twins reared together are more alike on an attribute than identical twins reared apart, we can infer that the environment plays a role in determining that attribute.

60
Q

What is an adoption design/study

A

Adoption design/study is a study in which adoptees are compared with their biological relatives and their adoptive relatives to estimate the heritability of an attribute or attributes

Are adopted children similar to their biological parents, whose genes they share (kinship = 0.50), or are they similar to their adoptive parents, whose environment they share? If adoptees resemble their biological parents in intelligence or personality, even though these parents did not raise them, then genes must be influential in determining these attributes. However, if the adoptees are more like their adoptive parents, who are not genetically related, we have evidence of environmental effects.

61
Q

What is a concordance rate

A

When studying traits that a person either does or does not display (e.g., a drug habit or clinical depression), researchers calculate and compare concordance rates—the percentages of pairs of people (e.g., identical twins, fraternal twins, parents and their adoptive children) in which both members of the pair display the trait if one member has it

Percentage of pairs of individuals that have this component, only utilized for categorical variables

62
Q

What is the heritability coefficient

A

The heritability coefficient is a numerical estimate, ranging from 0.00 to + 1.00, of the amount of variation in an attribute that is attributable to hereditary factors

Just how strong is a contribution of heredity to IQ

H = (r identical twins – r fraternal twins) x 2

63
Q

What are non-shared environmental influences (NSE)

A

Non-shared environmental influences (NSE) are environmental influences that people living together do not share and that should make these individuals different from one another

You and your parents share an environment but they are not with you when you go to your friends, that is your non shared environmental influences

NSE = 1- r(correlation) Identical Twins

64
Q

What are shared environmental influences (SE)

A

A shared environmental influence (SE) is the environmental influence that people living together share and that makes these individuals similar to one another

Experiences common to everyone sharing an environment

SE = 1 – (H+NSE)

H = Heritability