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QUIZ: Human Genetics

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Angelman sydrome results from inheriting a deletion from which parent?
Lynch Syndrome is due to mutation in which DNA mismatch repair genes?
Which molecule expressed on most B-cell malignancies is targeted by Rituximab?
Ion torrent and protein torrent sequences detect changes in what?
How many chromosomes does someone have if they have a Robertsonian Translocation?
What genetic technology is used to compare two genomes for copy number differences?
What is the study of chromosome structure and function known as?
What abnormal karyotype condition leads to a tall, thin individual with learning difficulties within normal parametres?
Familial Adenomatous Polyposis is due to mutation in which gene?
What are the three types of chromosome structures in humans?
What drug specifically inhibits the Bcr-Abl protein?
Genetically different diseases being diagnosed as the same disease is what type of disease complexity?
What is deletion or duplication of large regions of DNA called?
Which gene is the 'sex determining gene'?
What is a loss of function mutation where the mutated gene product interferes with normal gene product function known as?
Multiple genes contributing to a disease phenotype causing complexity to the disease is known as what?
Name the DNA that consists of 100bp of 2 to 4bp repeats dispersed across all chromosomes
What is the name for one of a number of alternative versions of a gene?
What is a loss of function mutation where a single allele is not enough for normal function known as?
A disease phenotype getting more severe in successive generations is known as what?
Name the two most prevalent transposons
HintAnswer
What disease has symptoms of splenomegaly and a hypermetabolic state?
Name the tandem repeat DNA that is associated with constitutive heterochromatin such as that found at the centromere (100s kb)
Pluripotency can be shown if what forms when embryonic stem cells are injected into a immunodeficient mouse?
MEN2 is due to mutation to which gene?
A female with monosomy of the X chromosome has what condition?
What are the 3 results of Loss Of Function Mutations?
A female with an XY karotype due to SRY mutation has what condition?
What is the karyotype of a person with Klinefelter Syndrome?
The Bcr-Abl fusion protein is created by a what?
Homologous recombination between chromosomes and what else creates genetic diversity?
What technology can be used to increase homologous recombination of a gene construct into cells up to 50% success rate?
A genotype at one locus affecting the phenotype at another is known as what?
Name the repetitive DNA found close to telomeres (0.1 - 20 kb)
What is the unifying clinical phenotype of MEN2?
What is the inheritance pattern of both MEN syndromes?
What are the three steps of differentiation of stem cells?
What is the sex of a person with androgen insensitivity syndrome?
Fragile X is due to mutation in which gene?
Regions of homology between the X and Y chromosomes are known as what?
Different mutations to the same gene that causes the same disease is known as what?

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