Genetic Testing, Therapy, Counseling (7,8,9,11) Flashcards
What is not a trend that has been recently observed?
a. The age of first time mothers has increased
b. Incidence of aneuploidies increases with maternal age
c. The age of mothers and human reproduction rate has increased over time
d. A 30 year old woman has a 1 in 21 chance of delivery a baby with aneuploidy
d. A 30 year old woman has a 1 in 21 chance of delivery a baby with aneuploidy
What is false about PGD?
a. Biopsy can be followed by FISH or PCR to detect the presence of mutations
b. It can only occur once implantation has occurred
c. IVF is used and a cell is sampled from the 8 cell stage
d. It can be used if there is a known family mutation or issues with recurrent chromosomes abnormalities
b. It can only occur once implantation has occurred
What is Intra Cytoplasmic Sperm Injection used for?
a. To create embryos that undergo PGD testing
b. To ensure a saviour child has a specific tissue genotype for their ill sibling
c. To reduce the risk of contamination with sperm DNA during PCR if PCR analysis is required
d. To aid with female infertility
c. To reduce the risk of contamination with sperm DNA during PCR if PCR analysis is required
When wouldn’t an invasive test such as amniocentesis or chorionic villus sampling be used?
a. When there is a high risk of polyploidy
b. There is an abnormal maternal serum test in the second trimester
c. There is an abnormal ultrasound
d. There is a history of chromosome abnormality or single gene mutation
a. When there is a high risk of polyploidy
What is false about Chorionic Villus Sampling and Amniocentesis?
a. Amniocentesis has an abortion risk of 3.2% whilst CVS has a 5% risk
b. Both are undertaken at 12 weeks gestation
c. Amniocentesis is recommended to mothers over 37 years
d. Care must be taken in CVS to separate maternal and foetal tissue
b. Both are undertaken at 12 weeks gestation
What is not a routine neonatal screening test?
a. Muscular Dystrophy
b. PKU
c. Hypothyroidism
d. Cystic Fibrosis
a. Muscular Dystrophy
What is not involved in screening for cystic fibrosis in newborns?
a. Those with high levels of IRT are recalled for further testing by a 12 mutation analysis
b. Those with only 1 mutation are not subjected to further testing
c. Those with 2 CF mutations are diagnosed with CF
d. The most common mutation is p.F508del
b. Those with only 1 mutation are not subjected to further testing
• Aneuploidy refers to the loss or gain of a set of chromosomes.
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• In 2013 the median age of first time mothers was 29.3 as opposed to 1986 when it was 25.4.
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• When the risk is there, it is common to carry out foetal genetic testing for breast cancer, FAP and Familial Alzheimer’s disease.
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• Ultrasounds are routine tests carried out once in a pregnancy at the 24 week stage.
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• Trisomy 21 can be indicated by high levels of oestriol and low levels of hCG in maternal blood.
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• NIPD can determine aneuploidies but not mutations in the foetus.
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What was involved in the early attempted treatments of XSCID?
a. David Vetter died due to an intense immune response to receiving T cells transduced with functional ADA
b. Ashanthi DeSilva now receives periodic infusions of T cells transduced with a retroviral vector with a functional ADA gene
c. The most common treatment method utilises an adenoviral vector carrying the functional ADA gene
d. Ashanthi DeSilva died due to Epstein Barr virus contracted following a bone marrow transplant
b. Ashanthi DeSilva now receives periodic infusions of T cells transduced with a retroviral vector with a functional ADA gene
Which is not one of the most common viral gene therapy vectors?
a. Retroviral
b. Lentiviral
c. Papovaviral
d. Adeno-associated viral
c. Parvoviral
Which viral vector is described accurately?
a. Adeno-associated viral vectors have ssDNA that remains as an extra chromosomal entity
b. Retroviral vectors have dsDNA that can integrate or remain extra chromosomal
c. Adeno viral vectors have ssDNA that remains as an extra chromosomal entity
d. Lentiviral vectors have ssRNA that remains extra chromosomal in non-dividing cells
a. Adeno-associated viral vectors have ssDNA that remains as an extra chromosomal entity
What is not an advantage of non-viral gene therapy vectors?
a. Versatility
b. No size limit
c. Transfer efficiency
d. DNA protection
c. Transfer efficiency
What is false about XSCID?
a. It leads to a defective gamma-C chain which means STAT receptors can’t respond and lead to the maturation of lymphocytes
b. Suffers lack B, T and NK cells
c. A pseudotyped gammaretroviral vector was used to treat Rhys Evans
d. Gene therapy generally follows the in vivo route
d. Gene therapy generally follows the in vivo route
What is true about the gene therapy treatment for haemophilia?
a. A retroviral vector was used
b. The gene involved was Factor IX
c. The corrected gene was injected into the pancreas
d. ¾ patients risk developing leukaemia due to insertional mutagenesis
b. The gene involved was Factor IX
What happened to Jesse Gelsinger and Jolee Mohr?
a. Jesse was cured of Xscid and Jolee died from Epstein Barr virus following bone marrow transplantation
b. Jesse died due to an immune response against the adenoviral vector used to treat his OTC whilst Jolee died due to mixing gene therapy with a suppressed immune system
c. Both Jesse and Jolee developed leukemia as a result of retroviral vector insertional mutagenesis
d. Jesse was cured of OTC and Jolee dies from an adverse immune response to the same treatment
b. Jesse died due to an immune response against the adenoviral vector used to treat his OTC whilst Jolee died due to mixing gene therapy with a suppressed immune system
• Gene therapy was initially developed for hereditary, single gene defect diseases but it is now more commonly used to treat polygenic diseases.
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• Most gene therapy clinical trials are focused on cardiovascular and immune disease.
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• Ex vivo delivery involves directly introducing the vector to the patient whilst In vivo delivery first utilises cultured cells derived from the patient which are then reintroduced to the patient.
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