A gene dosage study was conducted on a rare complete trisomy 22 human fibroblast cell line utilizing three lysosomal enzymes, ∝-iduronidase, ∝-galactosidase B, and arylsulfatase A, whose genes are located on chromosome 22 and two control enzymes, ,β-hexosaminidase A and -- fucosidase, with genes not on chromosome 22. A gene dosage effect was clearly demonstrated for an early passage number of the fibroblasts; however, later passage numbers gave inconclusive results. This study suggests that gene dosage studies must be carefully designed to be conducted only on early, matched passage number cells. ∝-fucosidase gave anomalous results most likely due to pleiotropic effects. The present gene dosage study confirmed the trisomic nature of the cell line studied and suggests that this type of study may be a useful diagnostic tool for small deletions, additions, or unbalanced translocations.

published_or_final_version / Biochemistry / Doctoral / Doctor of Philosophy

published_or_final_version / Psychiatry / Doctoral / Doctor of Philosophy

No description available.

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Thesis (Ph. D.)--University of Chicago, Department of Statistics, 2001. / Includes bibliographical references. Also available on the Internet.

Thesis (M. Phil.)--University of Hong Kong, 2001. / Includes bibliographical references (leaves 56-68).

Thesis (M. Phil.)--University of Hong Kong, 2010. / Includes bibliographical references (leaves 120-131). Also available in print.

Thesis (Ph. D.)--University of Hong Kong, 2010. / Includes bibliographical references (p. 173-200). Also available in print.

No description available.