[1] are when a DNA segment of one kilobase or larger is present at a variable copy number in comparison to the reference genome, and encompass [2] nucleotides per genome than SNPs and are [3] likely to cause health problems than SNPs. Common CNV’s in humans are [4] such as Huntington’s disease and spinocerebellar ataxia. Huntington’s disease is caused by a trinucleotide repeat [5] the coding sequence of the gene, while Fragile X syndrome is caused by a trinucleotide-repeat in the [6] region of the gene. The proposed mechanism for trinucleotide-repeat diseases is [7] which is thought to happen more often in regions of repeat during the process of [8].

Reference image

What type of mutation (s) is this in Question 27? Choose all that apply.

A recent study compared whole genome sequencing to PCR testing to detect the most common inherited neurological disorders and found that whole genome sequencing was slower and less efficient at detecting these common inherited neurological disorders. 

In 2008, researchers discovered a genetic mutation in a man that took place 6,000-10,000 years ago. He that is thought to be the first person to have the mutation that resulted in blue eyes, and would therefore be the source of all blue-eyed humans alive on the planet today. 

Match the correct letter in the diagram with the correct term from the word bank. Each word is only used once. (4 points)

In the MPN test, what is indicated by the formation of gas in the Durham tube?

True or False: Thermophiles are typically found in hot environments like compost piles or thermal vents.

After the presumptive test in the MPN method, what is the next step?

True or False: UV light is effective in both shaded/covered and unshaded/uncovered areas.