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
Q

What does a homozygous phenotype produce?

A

A phenotype for whatever the alleles are for since they will both either be dominant or recessive

26
Q

What does it mean to be heterozygous?

A

The alleles in a pair of chromosomes differ

27
Q

What does a heterozygous genotpye produce?

A

A phenotype for whatever the dominant allele’s chemical instructions are for (the recessive allele is ignored)

28
Q

What is incomplete dominance?

A

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
Q

What is co-dominance?

A

When more than one allele for a trait is considered to be dominant - Alleles both equally expressed
- E.g., Blood type

30
Q

What is polygenetic inheritance?

A

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
Q

Why are relatively few inherited disorders caused by dominant alleles?

A

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
Q

What are common inherited disorders associated with recessive alleles?

A
  • Sickle-cell disease
  • Albinism
  • Cystic fibrosis
  • Phenylketonuria (PKU)
  • Tay-Sachs disease
  • Cooley’s anemia
33
Q

What is the frequency and what are the characteristics of sickle-cell anemia?

A

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
Q

What is the frequency and what are the characteristics of albinism?

A

1 in 15,000 births; Skin lacks melanin which causes visual problems and extreme sensitivity to light

35
Q

What is the frequency and what are the characteristics of cystic fibrosis?

A

1 in 3,000 births among European Americans; Excess mucus clogs respiratory and digestive tracts (lung infections are common)

36
Q

What is the frequency and what are the characteristics of phenylketonuria?

A

1 in 10,000 births; Phenylalanine accumulates in the body and damages the nervous system causing cognitive issues

37
Q

What is the frequency and what are the characteristics of Tay-Sachs disease?

A

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
Q

What are some common inherited and dominant autosomal disorders?

A

High blood pressure, Huntington’s disease, extra fingers, migraine/headache, schizophrenia, Marfan syndrome

39
Q

What is Huntington’s disease?

A

Fatal disease characterized by progressive degeneration of the nervous system and caused by a dominant allele found on chromosome 4

40
Q

What are some characteristics associated with Marfan syndrome?

A

Very tall; long arms; host of physical problems such as heart defects

41
Q

What can geneticists help with?

A

Constructing a detailed family history before a woman becomes pregnant

42
Q

Why do extra or missing autosomal chromosomes always affect development?

A

Because autosomes contain so much genetic material

43
Q

Primarily because of abnormal autosomes, how many fertilized eggs abort spontaneously?

A

Nearly half within 2 weeks

44
Q

What is a common genetic disorder caused by having an extra autosomal chromosome?

A

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
Q

How does one end up with three chromosomes for the same trait?

A

During cell division and meiosis, one of the chromosomes doesn’t separate properly

46
Q

Are extra or missing sex chromosomes generally dominant or recessive disorders?

A

Recessive

47
Q

What sex is more susceptible to disorders associated with sex chromosomes and why?

A

Males because unlike females, they only have one X chromosome so they are less likely to be able to mask a recessive allele

48
Q

What are common disorders associated with sex chromosomes?

A

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
Q

What are the sex chromosomes, frequency, and characteristics of Klinefelter’s syndrome?

A

XXY; 1 in 500 to 1,000 male births; tall, small testicles, sterile, below normal intelligence, passive

50
Q

What are the sex chromosomes, frequency, and characteristics of XYY complement

A

XYY; 1 in 1,000 male births; tall and in some cases have below-normal intelligence

51
Q

What are the sex chromosomes, frequency, and characteristics of Turner’s syndrome?

A

X; 1 in 2,500 to 5,000 female births; short, limited development of secondary sex characteristics, and problems perceiving spatial relations

52
Q

What are the sex chromosomes, frequency, and characteristics of XXX syndrome

A

XXX; 1 in 500 to 1,200 female births; normal structure but delayed motor and language development

53
Q

What is behavioural genetics?

A

Branch of genetics that deals with inheritance of behaviour and psychological traits

54
Q

What are monozygotic twins?

A

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
Q

What are dizygotic twins?

A

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)