Investigating the role of VSX1 in corneal dystrophies.
Published: 2006
Language: eng
Number of pages: 106
ISBN-13: 9780494213162
Description: Posterior polymorphous corneal dystrophy (PPCD) is an endothelial dystrophy mapped to 20p 12-q 12 (PPCD1). Mutations in VSX1, a transcription factor of the disease interval, were found in PPCD and keratoconus patients. However, no change was identified in the family used for mapping the locus. This thesis explores the possible additional mutation mechanisms to clarify the pathogenicity of VSX1 in corneal dystrophies.Six (4 novel) transcript variants of VSX1 were characterized by a 3'RACE assay but did not show any mutations in PPCD1 families. Six cis- regulatory modules were predicted in the vicinity of VSX1 (100 kb) but did not reveal any disease-associated mutations. Semiquantitative real-time RT-PCR detected expression of  VSX1 in neonatal human cornea. Recombination events refine the disease interval in the original PPCD1 family from 20 to 16.44 cM. The refined interval contains CHED1 and a recently described PPCD locus for Czech families. Mutation analysis of PPCD1 families did not reveal any mutations in two candidate genes of the new interval.
Notes: Source: Masters Abstracts International, Volume: 45-03, page: 1370.

Thesis (M.Sc.)--University of Toronto, 2006.

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

ROBARTS MICROTEXT copy on microfiche.