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    Hausler Katharina

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    Hausler Katharina

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    Hausler Katharina

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    of 2

    Master in Molecular Biotechnology-UB

    Subject MOLECULAR DIAGNOSTICS

    Academic year 2023

    Questionnaire for the evaluation of Topic 3. Answer, please, the two questions.

    Do not forget to put your name.

    Please, upload your answer to the Virtual Campus

    Name: Katharina Hӓusler

    Q1

    Atypical femoral fractures (AFF) are a rare but devastating bone fractures consequence
    of bisphosphonate (BP) therapy leading to significant morbidity. However, at present
    there are no tests that would inform clinical decision making by identifying those at high
    risk of AFF for alternative bone sparing therapies. We have in our clinical practice three
    sisters with AFF who had been treated with BPs for more than 6 years. This observation
    argues in favour of a genetic background predisposing to AFF under long-term BP
    therapy.

    What strategy could you use for exploring this genetic background and therefore, to
    identify genes involved in the AFF risk?

    A good strategy for exploring the genetic background of AFF and identifying the genes
    involved in the risk of developing it is whole exome sequencing (WES), which is a type
    of genetic sequencing increasingly used to understand what may be causing symptoms
    or a disease.

    1. Subject collection
    A large number of individuals who has been treated with BPs and have
    or have not been developed AFF. The samples of those patients have to
    be stored and treated properly
    2. Whole-exome sequencing
    DNA of patients are extracted from blood samples
    3. Statistical analysis
    The genetic data from the two groups (patients with AFF and controls)
    would be compared using statistical methods to identify genetic variants
    that are significantly associated with the risk of AFF.
    4. Determination of the function of genes
    Once we have or genes that could be associated with AFF. This could
    involve in vitro studies using cultured bone cells to investigate the effects
    of the genetic variants on bone metabolism and fracture risk, as well as
    animal studies to investigate the association between the genetic
    variants and AFF in vivo.
    Q2

    Here, I present a typical roadmap for a genetic diagnosis of skeletal dysplasias.

    You must fill the boxes written in red with the technique that best fits the needs of
    the diagnosis. There are 5 different techniques you have to answer.

    1) Taqman real time PCR, SNP arrays

    2) MLPA

    3) Sanger sequencing

    4) chromosomal microarray analysis (CMA)

    5) next-generation sequencing (NGS)

    single nucleotide variants (SNVs) as well as short insertions and deletions (indels)
    are point mutations

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