Sickle Cell Anemia

1
Sickle Cell Anemia

• Autosomal recessive mutation that causes
  production of defective hemoglobin which changes
  the shape of the red blood cells
• Incidence of 1/400 in the African American
  Population

2
Phenylketonuria

• The amino acid phenylalanine is not properly
  metabolized
• Can be detected by a simple blood test at birth
• If test positive, put on diet
• Causes severe mental retardation if not treated
• Alternative name PKU

3
How It Is Inherited

• PKU is inherited as an autosomal recessive trait
• Nutra sweet is required by law to put a warning
  on its package because it contains this amino
  acid

4
Tay-Sachs disease

• A familial disorder found in east (Ashkenazic)
  European Jewish families
• Results in early death
• Tay-Sachs disease of an enzyme deficiency
• This enzyme is important in the metabolism of a
  fats
• These fatty acids then accumulate in the brain
  and cause death, within 1- 3 years

5
How It Is InheritedTay-Sachs Disease

• Tay-Sachs disease is inherited as an autosomal
  recessive gene

6
Turners Syndrome

• A disorder in women
• Alternative Names
• Monosomy X, missing an X chromosome
• Treated with hormonal therapy

7
How It Is InheritedTurners Syndrome

• Caused by nondisjunction of the sex chromosomes
• Characteristics of Turners Syndrome
• Scar tissue on ovaries
• Cannot reproduce
• Has a normal IQ
• Functions normally in society

8
Klinefelter Syndrome

• Chromosomes For a Male
• XXY male

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How Klinefelter Syndrome is Inherited

• Nondisjunction of the sex chromosomes
•  

10
Klinefelter SyndromeCharacteristics

• Always males
• Males are sterile
• Breast development
• Normal IQ

11
Down Syndrome

• Nondisjunction of chromosome 21
• In most cases, Down syndrome is caused by an
  extra chromosome 21.
• Also called mosiacism, and translocation 15/ 21
  and 14/ 21
• Characterized by lower set ears, small mouth, and
  protruding tongue

12
Achondroplasia

• An inherited disorder of bone growth
• Causes the person to become a dwarf
• Caused by an autosomal dominant gene that causes
  a mutation on chromosome 4
• Characterized by shorten limbs, shorten stature,
  and a shorten life span

13
Alcaptonuria

• Autosomal recessive inherited disorder
• Disorder of metabolism
• The enzyme converts homogentisic acid to CO2 and
  H2O.
• Characterized by urine which turns black when
  exposed to oxygen (panics young mothers)
•  Dr. Garrod discovered this disease
• Hypothesized that one gene produces one
  polypeptide
• The 1st disease identified as having a Mendel
  genetic pattern

14
Huntingtons Disease

• Alternative Name
• Huntington chorea
• Affects the central nervous system causing
  nervous twitches in the early stages, and leads
  to large scale muscle spasms
• Huntington disease is a progressive disorder
  involving wasting (degeneration) of nerve cells
  in the cerebrum (the largest portion of the
  brain).

15
Huntingtons Disease

• Autosomal dominant
• Ability to speak, move, and swallow, and breathe
  decline reulting in death
• Progressive degeneration of the motor cells in
  the spinal cord and brain

16
Huntingtons Disease

• Woody Guthrie, a famous folk singer, died of this
  disease

17
Lesch-Nyhan Syndrome

• Lesch-Nyhan syndrome is inherited as an X-linked
  recessive trait
• Found mainly in males

18
Symptoms Lesch-Nyhan

• Self-destructive behavior characterized by
  chewing off fingertips and lips if not restrained
• The first symptom is usually the presence of
  orange-colored crystal deposits in diapers

19
Lou Gehrigs Disease ALS

• A disorder causing progressive loss of nervous
  control of voluntary muscles because of
  destruction of nerve cells in the brain and
  spinal cord. Wasting away of muscles. Bundles
  of nerves lateral to the spinal cord, scarring
  and hardening of muscles.
• Alternative Name
• (Amyotrophic lateral sclerosis)

20
Lou Gehrigs DiseaseALS

• Diagnose by ruling out MS
• Occurs between ages 40 to 70
• 5 are inherited
• The rest are due to sporadic mutation

21
Symptoms

• Muscle atrophy (degeneration, wasting away)
• Muscle cramps
• Arm and Leg weakness (voluntary muscle strength
  and coordination decreases)
• Affects motor neurons that send messages to
  muscles
• Affected, and named after a famous baseball
  player

22
Marfan's Syndrome

• An autosomal dominant trait
• Often have weak connective tissue, results in
  aortic rupturing, and death occurs within 30
  seconds
• Abe Lincoln is believed to have had this disease
• Characterized by tall stature, long limbs, and
  spider fingers
• Have the ability to take their arms across their
  chest and behind their back and clasp their hands

23
Neurofibromatosis

• Autosomal dominant
• An inherited disorder characterized by formation
  of neurofibromas (tumors involving nerve tissue)
  in the skin, non- cancerous tumors on nerves that
  result in blindness or deafness

24
How it is Inherited

• The NF2 gene has been mapped to chromosome 22
• Can occur in both sexes
• No prevention, Treatment is removing tumors from
  nerves they grow on

25
Tourettes Syndrome

• A rare disorder characterized by facial
  twitching, tics, and vocal outbursts which
  sometimes results in foul language
• Autosomal dominant

26
 Related Information

• Tourette Syndrome is four times as likely to
  occur in boys as in girls.
• Often misdiagnosed as Scizophrenia (a disorder
  characterized by disturbances in thought,
  perception, affect, behavior, and communication
  lasting longer than six months) or Attention
  Deficit Disorder.

27
Cystic Fibrosis

• An inherited disease that affects the respiratory
  system
• Autosomal Recessive
• Causes death between ages 25- 30
• Treatments- pounding on back and inhaling steam
  vapor
• Caused by an enzyme deficiency that leads to
  mucus accumulation in the bronchial tubes

28
Cystic Fibrosis- How it is Inherited

• CFTR (cystic fibrosis transmembrane chloride
  regulator)
• gene on chromosome 7
• CF is caused by a defective gene, which codes for
  a sodium and chloride (salt) transporter found on
  the surface of the epithelial cells that line the
  lungs and other organs. Several hundred mutations
  have been found in this gene, all of which result
  in defective transport of sodium and chloride by
  epithelial cells. The severity of the disease
  symptoms of CF is directly related to the
  characteristic effects of the particular
  mutation(s) that have been inherited by the
  sufferer.

29
CFTR Gene
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Symptoms

• Cystic fibrosis affects the exocrine (mucus and
  sweat) glands of the body and is caused by a
  defective gene.
• Thick mucus is formed in the bronchial tree which
  predisposes the person to chronic lung
  infections.

31
Related Information

• It is the most common cause of chronic lung
  disease in children and young adults.
• It is the most common fatal hereditary disorder
  affecting Caucasians in the US.
• Risk factors include a family history of cystic
  fibrosis or unexplained infant death.

32
Hemophilia A

• X linked recessive
• Affects mostly males, found in royal lineage of
  England
• Deficiency in factor 8 protein leads to abnormal
  blood clotting
• Symptoms Bruising, swelling, and joint bleeding

33
Fragile X

• X linked recessive
• Occurs mainly in males
• End of the X chromosome breaks off
• Long faces, long ears, low IQ
• Causes male to be mentally retarded