Suppose that whole exome sequencing is performed on 250 children with IQ greater

Question

Suppose that whole exome sequencing is performed on 250 children with IQ greater than 140, and three novel non-sense mutations are observed in the gene CNS4B, but none are observed in this gene in 4,000 control exome sequences. Does this result establish that CNS4B is involved in high intelligence? Would your answer change if you knew that 0.1% of children with intellectual disability have three copies of CNS4B due to copy number variation? What other type of data from the experiment might you be interested in studying in order to associate genes with intellectual ability?

Explanation / Answer

Become sequencing is done to study all the genes in the genome which are being expressed. It can be inferred from the above stated results that CNS4B is involved in high intelligence.

It can be or it can not be the case. Presence of mutation in the gene and presence of various copies of gene are two different situations. Also the data of experiment is very less that is only 0.1% of children.

The data of somewhat larger population can be used for this study. Along with this effect of mutation in the gene and copy number variance should be studied in that population to actually know the reason of intellectual disability and high intelligence.

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