Genetic variation is an important contributor to normal human diversity, but may also contribute to human disease. Explain the difference between a polymorphism and a mutation.


Examination question 1.


Genetic variation is an important contributor to normal human diversity, but may also contribute to human disease. Explain the difference between a polymorphism and a mutation.


If “d” is a recessive allele for an autosomal monogenic disease, and “D” is the normal allele, what are the requirements for developing the disease? Describe an example of a recessive monogenic disease and describe what risk there is for being a carrier or to be affected in a family with this disease.


In a family with two children, one of the children, a boy, has symptoms of a genetic disorder. The parents are unaffected. Describe which scenarios that may be the reason for an affected child and unaffected parents.

Examination question 2.

Multifactorial (complex) diseases display no clear-cut pattern of inheritance. Such diseases are believed to be influenced by both genetic- and environmental factors. a)

Describe the rationale for using twin-studies in order to estimate the genetic and environmental contribution to a multifactorial disease.


Twin studies have some important limitations that may influence the result – which?


Genome-wide association studies (GWAS) are frequently used in attempts to identify genes involved in complex disorders. Explain the rationale (principle) for how GWAS can be employed to locate the genes involved.

Examination question 3.

  1. a) In a family with neurofibromatosis type 1 (NF1), the affected family members showed a specter of phenotypes, dividing from a few café-au-lait spots to serious malignant neurofibromas. Explain why the phenotype may differ so much in a family harboring the same mutation in the NF1


NF1 is a disease with full penetrance. What does that mean? c)

What is an unstable repeat expansion disease? Describe one example of such a disease.

Examination question 4.

Cytogenetic is the study of chromosomes. a)

Describe different types of chromosome aberrations that may lead to genetic disorders.


Describe briefly different techniques for detection of the chromosome aberrations described in a). Describe one of the methods more detailed.

  1. c)

Thirty % of Prader Willi syndrome is caused by uniparental disomy (UPD). Explain what UPD is and how it arises.

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