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.
| Identifer | oai:union.ndltd.org:unt.edu/info:ark/67531/metadc500617 |
| Date | 12 1900 |
| Creators | Hinkley, Craig S. (Craig Steven) |
| Contributors | O'Donovan, Gerard A., Kester, Marian V., White, Olivia Masih |
| Publisher | North Texas State University |
| Source Sets | University of North Texas |
| Language | English |
| Detected Language | English |
| Type | Thesis or Dissertation |
| Format | iv, 50 leaves, Text |
| Rights | Public, Hinkley, Craig S. (Craig Steven), Copyright, Copyright is held by the author, unless otherwise noted. All rights reserved. |
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