Expression analyses of members of the GTF2I gene family in Williams-Beuren syndrome.
Published: 2004
Language: eng
Number of pages: 174
Description: Williams-Beuren Syndrome (WBS; OMIM 194050) is a multisystem developmental disorder caused by a hemizygous deletion of 7g11.23. To assess the hypothesis that GTF2I gene family members are involved in the pathogenesis of WBS due to their haploinsufficiency, we performed expression analyses on  GTF2I and related gene GTF2IRD1 using independent methodologies of RNase Protection Assay and Quantitative Reverse-Transcription Polymerase-Chain-Reaction. Expression ratios were calculated by comparing normalized gene expression levels between probands (WBS Deletion, Inversion, or Duplication Patients) and respective parental controls. GTF2I expression levels correlated well with gene copy-number in WBS Deletion and Duplication Patient(s), but were not significantly altered in WBS Inversion Patients. In contrast, GTF2IRD1 showed overall low expression levels and no obvious correlation with gene copy-number in WBS Deletion or Duplication Patient(s), and were not significantly altered in WBS Inversion Patients. These results support a role for involvement of GTF2I  in the pathogenesis of WBS.
Notes: Adviser:  Lucy Osborne.

Thesis (M.Sc.)--University of Toronto, 2004.

Electronic version licensed for access by U. of T. users.

Source: Masters Abstracts International, Volume: 43-03, page: 0785.

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