Ferguson-Smith et al. (1976) measured the production of the red blood cell enzym

Question

Ferguson-Smith et al. (1976) measured the production of the red blood cell enzyme adenylate kinase (AK) in 7 patients heterozygous for deletions or duplications of specific segments of chromosome 9 (shown below; p and q indicate short and long arms, respectively; numbers indicate location within an arm and “ter” indicates the very endmost portion of the chromosome arm).

They obtained the following results:

In which region of chromosome 9 does the AK locus appear to be located? Explain how you arrived at that conclusion.

Explanation / Answer

AK locus appears to be located in q33-qter Loci. There is no change upon deletion /duplication of regions between pter to q33. Only when q31-qter was duplicated the enzyme activity changed. So we can conclude that when q33 to qter region duplicated, as in patient 7, the gene for AK, being located therein also did and hence the activity was enhanced.

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