Biology 9700 · AS & A Level · Principles of genetic technology

Principles of genetic technology — practice question

Array comparative genome hybridisation (aCGH) is a method that uses a microarray to examine an entire genome or selected regions of a genome.
(a)[3]

Outline the stages needed to prepare an individual's genome so that it is ready to be examined with a microarray chip.

(b)

DiGeorge syndrome is a dominant inherited disorder in humans. It results from a deletion of a large number of nucleotides from chromosome 22. The number of nucleotides lost differs between individuals and lies between $800\,000$ and $3\,100\,000$. The largest deletions may remove as many as $46$ protein-coding genes from the chromosome. Fig. 4.1 shows the outcome of aCGH with a microarray specific to the region of chromosome 22 where the DiGeorge syndrome deletion is located. The microarray compared DNA from two individuals: one affected by DiGeorge syndrome and one without DiGeorge syndrome (control DNA used for comparison).

(b(i))[1]

Using Fig. 4.1 as your reference, estimate the number of nucleotides deleted from the affected chromosome 22 in the individual with DiGeorge syndrome. Give the answer to the nearest $100\,000$ nucleotides.

(b(ii))[3]

Explain how the microarray method works to produce the results shown in Fig. 4.1.

(i)[1]

Using Fig. 4.1 as your reference, estimate the number of nucleotides deleted from the affected chromosome 22 in the individual with DiGeorge syndrome. Give your estimate to the nearest $100\,000$ nucleotides.

(ii)[3]

Explain how the microarray technique operates to generate the results shown in Fig. 4.1.

(iii)[3]

Suggest why the phenotypes of two individuals with DiGeorge syndrome may differ.

Worked solution & mark scheme

This 14-mark question has a full step-by-step worked solution and mark scheme. One marking point: DNA taken from cells or tissue

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