Read the summary and the most important questions on lecture flashcards human monogenic diseases (eigen)

• 1 form genes to clinic.. or from clinic to gene?

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• What is a clinical geneticist?

  medical specialist/doctor in the field of hereditary and / or congenital anomalies

• Why would people want a genetic dignosis? (9)

  1. Explanation and naming
     
  2. limitation of diagnostic circuit
  3. treatment and guidance
  4. prognosis
  5. information
  6. contact with other with the same (rare) diagnosis
  7. recurrence risk
  1. parents, kids, other family members
  8. reproductive counseling
     

• Consultation and couseling for gentic testing? (4)

  1. History family and birth, milestone
     
  2. pedigree
  3. physical examination
  4. genetic testing

• What will be done by the physical examination (16):

  1. Look for dysmorphology
  2. general impression
  3. contact, speech, behaviour
  4. stature, facial features, extremities, thorax, genetials, skin, hair, nails
  1. these people wil not give a health check
  5. measurements
  6. photographs of al the features will be taken
  7. comparison to family members

• What will be done in genetic testing? (7)

  1. Simple explaintion of chromosomes
     
  2. cytogenics (FISH, kyrotypering, SNP array)
  3. molecular genetics (WES, WGS, genepanel-analyse, sanger sequencing)
  1. are there differences between the reference sequence
  4. possible results genetics testing gives:
  1. diagnosis or not
  2. variant of unknown significance (VUS)
  3. incidental findings
  1. such as mutations that causes higher risk for cancers

• What are two things you can do to reduce the recurrence risk?

  • Prenatal diagnostics
  • Natrual precnancy and do a test of cells of teh womb, than look at the mutation, give a choice what they want to do.
  • Preimplantation genetic testing
  • IVF inplantation before implantations the take a few cells and do genetic testing. If no mutation present than it will be implantated.
  • 30% of these will succes. 

• Age-dependent expression (age at onset) disorders?

  people with disorders that are age onset will have the same chance to have the disease at birth at those who are not patients.
  
  A: probability that carrier of Hungtinton muataion developes symptoms.
  
  B: disease risk of person without symptoms and one affected parent

• 2 pedigree

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• What are the clues for autosomal dominat disease? (5)

  • Successive generations are affected
  • Males and females affected with equal frequency
  • Males and females transmit the disease to subsequent generations
  • Male-to-male transmission occurs
  • Children of affected parent have 50% chance of being affected

• What are the clues for autosomal recessive disease? (5)

  • Affected children are (usually) born to unaffected parents
  • Parents of affected children are hetrozygous, asymptomatic carriers of mutant allele
  • Increased incidence if parents are related (consanguineous = "of the same blood")
  • Both girls and boys are affected at equal frequency
  • After birth of affected child, each subsequent child has 25% chance of being affected (ouders beide drager)

• What are the clues for X-linked recessive? (6)

  • Affects mainly males
  • Mother of affected male is usually an asymptomatic carrier
  • Mother of affected male may have affected male relatives
  • There is no male-to-male transmission
  • If the mother is only carrier there is a 50% chance that the boys get it and girls there chances are 50% that she is a carrier.
  • Female with disease have sick boys and girls that are carriers.