Science Quiz / Human Genetics

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Human Genetics

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

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