Human Genetic Disorders
description
Transcript of Human Genetic Disorders
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Chapter 14: Human Genetics
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Human Chromosomes Autosome - any
chromosome other than the X & Y
Sex chromosomes–
23rd pair of determine sex in organism
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Karyotype A picture of
chromosomes arranged based on size and shape.
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Karyotypes can identify abnormal number of chromosomes due to mistakes during meiosis.
Nondisjunction: the failure of chromosomes to separate properly during Anaphase I or II.
Anaphase 1Anaphase 2
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As a result of nondisjunction:
Can lead to a number of disorders in the baby. Trisomy (extra chromosome) or Monosomy (one less chromosome).
• Down’s syndrome• Klinefelter’s syndrome• Turner’s syndrome• Edward’s syndrome
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Karyotyping & Disease
Sex: Female # of
chromosomes=46
Diagnosis: healthy
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Karyotyping & Disease
46 Male Healthy
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Karyotyping & Disease
Male 47 Klinefelters
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Karyotyping & Disease
Female 45 Turners
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Karyotyping & Disease
Female 47 Downs Syndrome
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Karyotyping & Disease Male 47 Edward’s
syndrome
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Edward’s syndrome
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Pedigree A chart that shows the relationships within a
family that can be used to trace inheritance.
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How to draw a pedigree
A circle represents a female.
A circle represents a female
A square represents a male
A horizontal line connecting a male and female represents a marriage
A vertical line and a bracket connect the parents to their children.
A shaded circle or square indicates that a person expresses the trait.
A circle or square that is not shaded indicates that a person does not express the trait.
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Ms. Pitt’s pedigree:
Laura Tom Arlene Tom Joann Chuck Diane Jack
TammyNicole Tom Jeff Matt Jess Jodie Ms. PittMonica Candice Kayla
Mae Tom
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X-Chromosomes Inactivation In female cells, one X chromosome is
randomly switched off. The turned off X chromosome forms a
dense region in the nucleus called a Barr body.
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Human Genome Project An ongoing effort to analyze the
human DNA sequence.
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End of their Notes Slide 23-38 I will do when I return.
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Autosomal Recessive DisordersTay - Sachs Disease More common
among Jewish populations
Young children begin showing signs of slowed development
Severe impairment and death
Build up of lipids in the body – lysosomes do not function properly
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Autosomal Recessive DisordersCystic Fibrosis More common in
Caucasians Mucus in
respiratory tract, difficulty breathing
Extreme salty sweat
Mucus may cause secondary infections
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Autosomal Recessive DisordersPhenylketonuria (PKU) Lack enzyme for normal
metabolism Phenylalanine builds up
and causes brain damage
Newborns are routinely tested
Changes in diet lead to normal life
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PKU
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Can be managed if caught early
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Autosomal Recessive DisordersSickle Cell Disease More common
in Africans (African-Americans)
Causes blood to be sickle shaped
Affects oxygen flow to organs, causing weakness, pain, anemia, etc
Heterozygotes are resistant to malaria
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Sickle-Cell Anemia
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Autosomal Dominant Disorders Affected children
usually have an affected parent
Heterozygotes are effected
Two heterozygotes (Hh x Hh) can produce a normal (hh) child
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Autosomal Dominant DisordersHuntington Disease Neurological disorder, progressive
degeneration of the brain Symptoms appear later in life (40s,
50s)
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Huntington’s Disease
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Huntington’s Disease
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Autosomal Dominant Disorders
Achondroplasia Common form of Dwarfism Short arms and legs, normal
torso Homozygotes (AA) do not
survive
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Achondroplasia
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Autosomal Dominant DisorderHypercholesterolemia Incomplete dominance Caused by a recessive allele, however in
the heterozygous form (Hh), individuals have 2x the normal blood cholesterol levels
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Can lead to Atherosclerosis