Gene Dosage Study on Human Chromosome 22

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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 ... continued below

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iv, 50 leaves

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Hinkley, Craig S. (Craig Steven) December 1986.

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  • Hinkley, Craig S. (Craig Steven)

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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.

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iv, 50 leaves

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  • December 1986

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  • March 9, 2015, 8:15 a.m.

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  • Nov. 4, 2016, 12:21 p.m.

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Hinkley, Craig S. (Craig Steven). Gene Dosage Study on Human Chromosome 22, thesis, December 1986; Denton, Texas. (digital.library.unt.edu/ark:/67531/metadc500617/: accessed June 22, 2018), University of North Texas Libraries, Digital Library, digital.library.unt.edu; .