Science Quiz / Human Genetics

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Human Genetics

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

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