Chapter 2 - Genetic Basis of Child Development Flashcards

1
Q

What is a gamete?

A

A single cell involved in reproduction that contains half a set of genetic material

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2
Q

What is an ovum (ova)?

A

The gamete produced in females by the ovaries

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3
Q

What is sperm?

A

The gamete produced in males by the testes

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4
Q

What are chromosomes?

A

Tiny structures in the nucleus that contain genetic material

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5
Q

What is a gene?

A

Each group of nucleotide bases that provides a specific set of biochemical instructions which regulates the development of all human characteristics and abilities

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6
Q

What is a genotype

A

The complete set of genes that makes up a person’s heredity (genetic makeup of an individual)

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7
Q

What is a phenotype?

A

An individual’s physical, behavioural, and psychological features produced by genetic instructions in conjunction with environmental influences

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8
Q

What is mitosis?

A

The process of cell duplication in which each new cell receives an exact copy of the original chromosome

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9
Q

What is meiosis?

A

The process of cell division through which gametes are formed and in which the number of chromosomes in each cell are halved

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10
Q

How many sperm does a teaspoon of semen released into the vagina during ejaculation contain and how many actually make it to the fallopian tubes?

A

200-500 million; a few hundred

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11
Q

If an egg is present, what do many sperm simultaneously begin to do?

A

Burrow their way through the cluster of nurturing cells that surround the egg

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12
Q

What happens when a sperm penetrates the cellular wall of the egg?

A

Chemical changes occur immediately to block out all other sperm

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13
Q

How many chromosomes does each egg and sperm contain?

A

23 chromosomes

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14
Q

What will define a child’s heredity?

A

The 23 pairs of chromosomes produced when the sperm penetrates the egg and their chromosomes combine

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15
Q

How many pairs of autosomes are there and are they the same size?

A

22; yes

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16
Q

What are the 23rd pair of chromosomes called and why?

A

Sex chromosomes because they determine the sex of the child

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17
Q

Are the sex chromosomes the same size?

A

No, the X chromosome is much larger than the Y chromosome

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18
Q

What sex with an X-carrying sperm produce if it fertilizes an egg?

A

Female (XX)

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19
Q

What sex with a Y-carrying sperm produce if it fertilizes an egg?

A

Male (XY)

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20
Q

What does each chromosome consist of?

A

One molecule of deoxyribonucleic acid (DNA)

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21
Q

What happens during gametogenesis?

A

Crossing-over takes place between the 2 innermost pairs of chromosomes to ensure that the new being will inherit a unique combination of genes from the mother and the father

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22
Q

What is the result of gametogenesis?

A

Duplicated chromosomes have separated to form gametes, each with 23 single chromosomes resulting in 4 sperm cells and a single ovum

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23
Q

What is an allele?

A

The individual forms of a gene located in the same place on a chromosome
- Genes come in different forms that are know as alleles

24
Q

What does it mean to be homozygous?

A

The alleles in a pair of chromosomes are the same

25
What does a homozygous phenotype produce?
A phenotype for whatever the alleles are for since they will both either be dominant or recessive
26
What does it mean to be heterozygous?
The alleles in a pair of chromosomes differ
27
What does a heterozygous genotpye produce?
A phenotype for whatever the dominant allele's chemical instructions are for (the recessive allele is ignored)
28
What is incomplete dominance?
One allele does not dominate another completely (alleles blend) - The resulting genotype often falls between the phenotype associated with either allele - E.g., Red and white flower --> pink flower
29
What is co-dominance?
When more than one allele for a trait is considered to be dominant - Alleles both equally expressed - E.g., Blood type
30
What is polygenetic inheritance?
Quantitative inheritance, where multiple independent genes have an additive or similar effect on a single quantitative trait (e.g., height, skin colour, eye colour, weight)
31
Why are relatively few inherited disorders caused by dominant alleles?
Every person with at least one of the alleles would have the disorders and typically, they would not live long enough to reproduce - Dominant alleles that produce fatal disorders soon vanish from the species
32
What are common inherited disorders associated with recessive alleles?
- Sickle-cell disease - Albinism - Cystic fibrosis - Phenylketonuria (PKU) - Tay-Sachs disease - Cooley's anemia
33
What is the frequency and what are the characteristics of sickle-cell anemia?
15 in 1000 births; Changes the shape of red blood cells and blocks blood flow to organs, depriving the affected organs of blood and oxygen
34
What is the frequency and what are the characteristics of albinism?
1 in 15,000 births; Skin lacks melanin which causes visual problems and extreme sensitivity to light
35
What is the frequency and what are the characteristics of cystic fibrosis?
1 in 3,000 births among European Americans; Excess mucus clogs respiratory and digestive tracts (lung infections are common)
36
What is the frequency and what are the characteristics of phenylketonuria?
1 in 10,000 births; Phenylalanine accumulates in the body and damages the nervous system causing cognitive issues
37
What is the frequency and what are the characteristics of Tay-Sachs disease?
1 in 2,500 births among Jews of European descent; The nervous system degenerates in infancy, causing deafness, blindness, cognitive issues, and during the preschool years, death
38
What are some common inherited and dominant autosomal disorders?
High blood pressure, Huntington's disease, extra fingers, migraine/headache, schizophrenia, Marfan syndrome
39
What is Huntington's disease?
Fatal disease characterized by progressive degeneration of the nervous system and caused by a dominant allele found on chromosome 4
40
What are some characteristics associated with Marfan syndrome?
Very tall; long arms; host of physical problems such as heart defects
41
What can geneticists help with?
Constructing a detailed family history before a woman becomes pregnant
42
Why do extra or missing autosomal chromosomes always affect development?
Because autosomes contain so much genetic material
43
Primarily because of abnormal autosomes, how many fertilized eggs abort spontaneously?
Nearly half within 2 weeks
44
What is a common genetic disorder caused by having an extra autosomal chromosome?
Down syndrome/Trisomy 21, which is caused by having an extra 21st chromosome often provided by the egg and results in cognitive impairment, health problems, and different facial features
45
How does one end up with three chromosomes for the same trait?
During cell division and meiosis, one of the chromosomes doesn't separate properly
46
Are extra or missing sex chromosomes generally dominant or recessive disorders?
Recessive
47
What sex is more susceptible to disorders associated with sex chromosomes and why?
Males because unlike females, they only have one X chromosome so they are less likely to be able to mask a recessive allele
48
What are common disorders associated with sex chromosomes?
Klinefelter's syndrome, XYY complement, Turner's syndrome, XXX syndrome. hemophilia, fragile-X-syndrome, red/green colourblindness, night blindness, Duchene muscular dystrophy, and diabetes insipidus
49
What are the sex chromosomes, frequency, and characteristics of Klinefelter's syndrome?
XXY; 1 in 500 to 1,000 male births; tall, small testicles, sterile, below normal intelligence, passive
50
What are the sex chromosomes, frequency, and characteristics of XYY complement
XYY; 1 in 1,000 male births; tall and in some cases have below-normal intelligence
51
What are the sex chromosomes, frequency, and characteristics of Turner's syndrome?
X; 1 in 2,500 to 5,000 female births; short, limited development of secondary sex characteristics, and problems perceiving spatial relations
52
What are the sex chromosomes, frequency, and characteristics of XXX syndrome
XXX; 1 in 500 to 1,200 female births; normal structure but delayed motor and language development
53
What is behavioural genetics?
Branch of genetics that deals with inheritance of behaviour and psychological traits
54
What are monozygotic twins?
Identical twins that come from a single fertilized egg that splits in two (they have the same genes that control body structure, height, and facial features)
55
What are dizygotic twins?
Fraternal twins that come from two separate eggs fertilized by two separate sperm (genetically, fraternal twins are just like any other siblings; on average, about half their genes are the same)