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LENScience Senior Biology Seminar Series 2011
A neuploidy and BiotechnologyRichard Fisher, Bert Stewart, Jenny Eaton, Jacquie Bay
12 May 2011
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New Zealand PopulationWednesday, 11 May 2011 at 12:37:59 pm
4,410,930 people
Statistics NZ
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New Zealand PopulationWednesday, 11 May 2011 at 12:37:59 pm
4,410,930 people
Thursday , 12 May 2011 at 12:37:59 pm
4,411,060 peopleStatistics NZ
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New Zealand Population
• one birth every 8 minutes and 10 seconds
• one death every 20 minutes and 7 seconds
• a net migration gain of one New Zealand resident every 49 minutes and 51 seconds.
Statistics NZ
+ 130 people in 24 hours
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Conception
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Healthy Pregnancies
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Healthy Children
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2-3% of infants are born with serious birth defects
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15% pregnancies result in miscarriage
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Context: Chromosomal Abnormalities- cause and effect
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Meeting human need and demand
Genetic Screening & Diagnosis- application of biotechnology
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Contemporary Issues...........For achievement, students are expected to describe:• biological concepts and processes relating to the issue• implications of the issue, which can be biological, social,
ethical, economic or environmental• differing opinions or viewpoints.Excellence requires evaluation, justification..............
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Contemporary Issues...........• What is the human need & demand?• What knowledge is required to understand this situation?• What are the technologies that are used to screen /
diagnose genetic disorders?• How do the technologies advance development of ways to
meet human need & demand?
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NCEA Level 3 Achievement Standards3.1 – Ecological Niche3.2 –Contemporary Biological Issue3.3 – DNA and Gene Expression3.4 – Animal Behaviour & Plant Responses3.5 – Processes & Patterns of Evolution3.6 – Applications of biotechnological techniques3.7 – Trends in Human Evolution
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Live Births in NZ 1993 – 2008
52,000
54,000
56,000
58,000
60,000
62,000
64,000
66,000
1993 1998 2003 2008
Live
Birt
hs
Year Statistics NZ
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Statistics NZ
1.851.901.952.002.052.102.152.202.252.30
1977 1982 1987 1992 1997 2002 2007
Birth
s pe
r Wom
an
Time (Years)
Total Fertility Rate 1977 - 2009
Replacement Level
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Statistics NZ
24
25
26
27
28
29
30
31
1969 1979 1989 1999 2009Med
ian
Age
of M
othe
r (Ye
ars)
Time (Years)
Median Age of Mother (1969 – 2009)
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What can we learn from History?Children born per 1000 women per year. (Menken et al, 1986)
0
100
200
300
400
500
600
15 20 25 30 35 40 45
Chi
ldre
n B
orn
/ 100
0 w
omen
/ Y
ear
Age of Mother
19th Century Fertility Rates by Age
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Age (Years) Monthly Fertiliy rate (%)25 2530 2035 1637 11 40 642 444 2
Fertility Rate Decreases with Age
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Miscarriage Rate Increases with Female Age
Female Age (Years) Miscarriage Rate (%)
Less than 30 10 – 15%
30 – 40 15 – 20%
More than 40 40%
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Effect of smoking in femalesó Reduces chance of conception
per month to 60% of non smoker
ó Doubles the risk of early pregnancy loss
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Fertility Reduces with Male Age Male Age (Years) Pregnancy Chance relative to Female Age
< 25 1.0
30 – 34 0.62
35 – 39 0.50
> 40 0.51 Ford: Human Reproduction
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Older Fathersó Increases rate of miscarriage
• If the father is older than 35, there is a 2.33 times higher chance of miscarriage
(Ford et al)
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ó Smoking affects sperm production, motility, morphology and increases DNA damage
ó A child born to a father who smokes has 4 x risk of childhood cancer.
Effect of smoking in males
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Older fathers are linked to ........Schizophrenia in the offspring
Father > 45 odds ratio 3.0 – 1 in 46 chance (Malaspina 2001)
Increase in AutismCompares with 30 years> 40 – 3 x the risk> 50 – 5 x the risk (Reichenberg 2006 and others)
Increase in Achondroplasia (short stature with short limbs).
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Why?
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Chromosomal AbnormalitiesMost common cause of miscarriageAffect multiple genes
• Deletion• Duplication• Inversion • Translocation
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Normal Karyotype
2n = 46
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Aneuploidy• Variation in chromosome number• Most commonly identified chromosomal
abnormality in humans• 5% recognised pregnancies (Hassold and Hunt, 2001)
• 0.3% of live births• Most common cause of intellectual disabilities
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Monosomy(2n-1)
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Monosomy(2n-1)
Turner Syndrome (XO)
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Trisomy(2n+1)
Down Syndrome
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Causes of Trisomy (2n+1)ó Non-disjunction during Meiosisó Non-disjunction during Mitosis
in the early embryoó Translocation 21
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Meiosis
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Nondisjunction 1st DivisionMeiosis
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Nondisjunction 2nd Division Meiosis
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Nondisjunction Mitosis
Cells arising from affected cells will be affected, others will be normal
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Translocation
Translocation– affected Balanced Translocation– unaffected
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Trisomy 21 - Down Syndromeó Affects approximately 1 in 400
pregnanciesó Affects approximately 1 in 700
live birthsó Increases with Maternal Age
21
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Trisomy 21 - Down Syndromeó Mild:◦ Intellectual impairment◦ Able to participate in society
ó Severe:◦ Severe intellectual impairment◦ Severe health problems
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0
10
20
30
40
36 38 40 42
Prev
alen
ce o
f DS
per 1
000
birt
hs
Age of Mother (Years)
Live Birth
Amnio (15-17 weeks)
CVS (10 weeks)
Prevalence of Down Syndrome for Maternal Age Halliday et al 1995
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Why is the rate of aneuploidy higher in older women?
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Screening vs Diagnostic testingduring pregnancy
Screening• Indicates
relative risk
Diagnosis• Definite answer
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Screening and Diagnostic tests
Available to women during pregnancy to test for specific problems in the fetus.
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Screening and Diagnostic tests
Optional and Voluntary
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Decisions........- Information allows people to make
an informed choice about testing
- People consider their moral, religious, ethical and personal views on termination and disability.
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The beginning of screening
ó 1970’s
ó Karyotyping technology
ó Only for high risk women >35
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A history of advances• MSS (2nd trimester blood test)
• NT alone (from about 2000)
• Integrated testing using 1st trimester blood test and NT ultrasound available to women of any age (From 2009)
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Screening testsó Carry no risk to the pregnancy
ó Give an “increased” or “decreased” risk of the baby having a chromosome problem usually in comparison to the mothers age related risk.
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Screening testsó Approximately 5% of pregnancies tested will
receive an increased risk result
ó Most of these won’t have a chromosome problem
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Screening testsó Approximately 5% of
pregnancies tested will receive an increased risk resultó Most of these won’t have a
chromosome problem
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NT ultrasoundó 11 – 13 weeks of pregnancy
ó Give a risk figure e.g. 1 in 135 risk compared with an age related risk of 1 in 320 Nuchal Translucency
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Maternal Serum Screen• 11 – 14 weeks or 15 – 17 weeks• Measures the levels of specific
proteins in the mothers blood• Gives a “high” or “low” risk result
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Integrated test1st Trimester
• Blood test and NT ultrasound2nd trimester
• Blood test combined with the maternal age to give a risk figure.
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Integrated testMaternal
Serum ScreenNuchal
TranslucencyNT + blood
testDetection
rate 60% ~75% ~80-90%False
negative rate 40% ~25% ~10-20%
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Screening testsCannot say whether the pregnancy is
affected with a chromosome problem,
just whether it is more or less likely to be.
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Screening testsó A “high risk” result can be extremely anxiety
provoking for the couple while they decide how to proceed.
ó Couples may have a reassuring screening test and go on to have a child affected with a chromosome problem.
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Decisions........Couples often agonise over whether to have a CVS or Amniocentesis because of the risk of miscarriage
• History of Infertility• Previous miscarriage• Age
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Decisions........Living with the uncertainty of not
having a diagnostic test can also be
extremely anxiety provoking
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Genetic Counselling • Help provide an opportunity to discuss
• What the result means for the parents/family• Options available• Advantages & disadvantages of further testing• Parent’s attitude toward disabilities and termination• The course of action the couple think they may take
• In a non-judgement, supportive environment
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Prenatal Diagnostic Tests Not maybe, but yes or no
Amniocentesisó 15 – 17 weeks gestationó Remove 10 – 20 mL fluidó 0.5% to 1% risk of miscarriage
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Chorionic Villus Sample
• 11 – 13 weeks gestation
• Removal 10 – 25 mg of tissue
• 1 – 3% risk of miscarriage
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Advances in Biotechnologyó Pre-implantation genetic Diagnosis◦ Screening for aneuploidy◦ Diagnosis for inheritable disease◦ Offers the opportunity to detect in the
embryo before pregnancy is established
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Preimplantation Genetic Diagnosis Generate Embryo via IVF
Screen EmbryoBiopsy and Diagnostic Screening
Implant unaffected embryo
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Stimulation of ovary to produce eggs
Egg recovery
Mixing of Sperm and Egg
Embryo Growth in Culture
Embryo Replaced in Uterus
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Hyperstimulated Ovary
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Normal embryo developmentD1
D4 D5 D6
D1-2 D2 D3
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PCR tube glass slide culture dish
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Identifying Inheritable Genetic DisordersPolymerase Chain Reaction (PCR)
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7 7
Identifying Inheritable Genetic DisordersPolymerase Chain Reaction (PCR)
Cystic Fibrosis
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7 7
Identifying Inheritable Genetic DisordersPolymerase Chain Reaction (PCR)
Cystic Fibrosis7 7
Amplification
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7 7
Identifying Inheritable Genetic DisordersPolymerase Chain Reaction (PCR)
7 7Embryo 1 Embryo 2
Parent1
Parent2
Embryo1
Embryo2
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Aneuploidy - Chromosomal Rearrangement
X
Y
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Fluorescense in situ hybridisation FISH
X
Y
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Fluorescense in situ hybridisation FISH
X
Y
Male XY
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Fluorescense in situ hybridisation FISH
X
Y
X
Klinefelter’s Syndrome Male XXY
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Fluorescense in situ hybridisation FISH
X
Y
Down Syndrome Male XY
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Limits of FISH
Can only look at ~ 10 chromosomes
Leaves ploidy of 14 autosomes unknown
90% accuracy from a single cell
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Comparative Genomic Hybridisation (CGH)
X Y
Control DNA Test DNA
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X
Y
Normal Male
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X
Y
Male with Y-deletion
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X
YY
Normal Female
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How does one make the decision to proceed?
Numbers are easy
Values are difficult
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Does it always go right
2 - 3% of all babies are born with some congenital abnormality
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óWhat is a ‘serious disorder’? ó What grounds is the decision made on?ó Who makes the decision?ó Is a ‘serious disorder’ one that presents only at
birth?ó What would you think of selecting for a
disability?
The HART Act and PGD
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Challenge 1 AneuploidyAneuploidy resulting in the loss of an entire chromosome usually results in a non-viable embryo. However, if the chromosome concerned is the X-chromosomes the embryo may live. Explain why the loss of an entire autosome is almost always lethal but the loss of the X-chromosome may not be lethal.
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Challenge 2 Trisomy 21
Compare and contrast the three possible mechanisms by which Trisomy 21 can arise. 21
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Challenge 3 Contemporary IssuesDiscuss how the use of named biotechnologies have enabled scientists to develop effective methods of diagnosing genetic abnormalities in embryos and how these technologies have met a human need or demand.
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Pre-natal Diagnosis – DURING pregnancyPreimplantation genetic diagnostics – BEFORE pregnancy
Ø Identify the technologies usedØ Define the human need and demand that led to
technological developmentsØ Discuss the ethical issues arising in each situation
Challenge 4 Contemporary Issues
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LivechatHelen Mora; Anna Lehmann
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