Chapter 3 - Hereditary influences on development Flashcards

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1
Q

how is a zygote created

A

fathers sperm and mothers ovum

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2
Q

how many chromosomes should be present

A

46 total - 23 from each parent

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3
Q

chromosomes contain and are made of…

A

each chromosome contains genes
- made up of DNA
- the chemical code for development
- shaped like a double helix
- has the ability to replicate

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4
Q

when does mitosis begin

A

after fertilization

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5
Q

what are monozygotic twins

A

identical twins
- a zygote that divides to form two genetically identical individuals

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6
Q

what are dizygotic twins

A

fraternal twins
- occurs when two ova are released simultaneously and each is fertilized by a different sperm
- same genetic comparison as normal siblings
- more common

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7
Q

what chromosomes do males have

A

X and Y chromosomes

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8
Q

what chromosomes do females have

A

X and X chromosomes

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9
Q

what is the sex of a child determined by

A

fathers sperm

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10
Q

what are genes

A

stretches of DNA that provide the chemical basis for development

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11
Q

what do genes do

A

produce amino acids and proteins
- the proteins can do things like control melanin in the eyes
- guide cells to develop different parts of the body
- regulate pace and timing of development

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12
Q

what are genes impacted by

A

environmental factors

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13
Q

what do alleles influence

A
  • one pair of genes
  • one member from mother, one from father
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14
Q

if two alleles are homozygous…

A

they are either both dominant or both recessive

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15
Q

if two alleles are heterozygous…

A

one is dominant and one is recessive

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16
Q

if two alleles are codominant…

A

both alleles are expressed simultaneously
- ex. blood type AB

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17
Q

examples of dominant traits

A
  • dark hair
  • curly hair
  • pigmented skin
  • type A blood
  • facial dimples
  • farsightedness
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18
Q

examples of recessive traits

A
  • blond hair
  • straight hair
  • albinism
  • type O blood
  • no dimples
  • normal vision
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19
Q

what is sex-linked inheritance

A
  • characteristics associated with genes on sex chromosomes
  • most on X chromosome (making males more susceptible to recessive X-linked traits)
20
Q

what is polygenetic inheritance

A

characteristics influenced by many pairs of alleles
- ex. height, weight, skin colour

21
Q

what are epigenetics

A

a modification of gene expression that has no effect on the DNA
- can affect subsequent generations under specific circumstances
- prenatal hardship effects genes and function of offspring

22
Q

what are congenital defects

A

problems that are present at birth, but many conditions are not presentable at birth
- ex. huntingtons

23
Q

how do chromosomal abnormalities occur

A
  • during cell division in meiosis, distribution of chromosomes may be uneven
  • may also occur through mutation
  • most abnormalities are lethal
  • some are not, and some babies are born with +1 or -1 chromosome
24
Q

female abnormalities from sex chromosomes

A
  • turner syndrome: XO - webbed neck, low spacial abilities
  • poly-X syndrome: XXX, XXXX, or XXXXX - intellectial disabilities
25
Q

male abnormalities from sex chromosomes

A
  • klinefelter syndrome: XXY or XXXY - female secondary sex characteristics
  • supermale syndrome: XYY, XYYY or XYYYY - significantly taller than normal
26
Q

what are autosomes

A

first 22 pairs of chromosomes

27
Q

what is the most common autosomal abnormalities

A

down syndrome (trisomy 21)
- extra 21st chromosome
- intellectual disabilities
- distinctive physical features
- risk increases with age of mother

28
Q

examples of genetic abnormalities that are associated with recessive alleles

A
  • cystic fibrosis
  • diabetes
  • hemophilia
  • parents often healthy; both must be carriers
29
Q

example of genetic abnormalities that are associated with dominant alleles

A
  • huntington’s disease
  • parent contributing allele has the disorder
30
Q

what does genetic counselling do

A

predicts likelihood of couple bearing a child with a chromosomal disorder

31
Q

how is genetic counselling conducted

A
  • pedigree (complete family history)
  • blood tests
  • screening tests
32
Q

what are examples of prenatal detection techniques

A
  • amniocentisis
  • chorionic villus sampling (CVS)
  • non-invasive prenatal testing (NIPT)
  • ultrasound
33
Q

what is an amniocentesis

A

analysis of amniotic fluid
- finds out sex and can detect down syndrome

34
Q

what is chorionic villus sampling

A

fetal cells extracted from chorion membrane
- can be performed earlier than amniocentesis

35
Q

what is non-invasive prenatal testing

A

assesses fragments of cell-free DNA circulating in the maternal bloodstream

36
Q

how does an ultrasound work

A

scans womb with sound waves

37
Q

treatment options for hereditary disorders

A
  • diet for phenylketonuria (PKU)
  • fetal surgery
  • genetic engineering (gene replacement therapy, germline gene therapy)
38
Q

what is a genotype

A

inherited genes

39
Q

what is a phenotype

A

observable characteristics and behaviours

40
Q

what is heritability

A
  • amount of variability in a trait that is attributed to hereditary influence
41
Q

what are methods to determine heritability

A
  • selective breeding experiments (animals or plants)
  • family studies
  • compare members of family who live together
42
Q

what is a concordance rate

A
  • percentage of pairs of people in which both members display a trait
43
Q

what are non-shared environmental influences

A
  • experiences unique to individual, not shared by other members of family in same environment
44
Q

what are shared environmental influences

A
  • experiences common to all family members in the same environment
45
Q

what is the canalization principle

A

genes restrict development to a small range of outcomes
- babbling is a highly canalized attribute

46
Q

what is the range of reaction principle

A
  • genes set boundaries for a range of phenotypes based on environment
  • not as rigid as canalization