Molecular genetic studies of fragile X syndrome and spinocerebellar ataxia type 2

Abstract

Expansions of specific DNA triplet repeats are the cause of an increasing number of hereditary neurological disorders in humans. In this thesis, a robust methylation-specific triple PCR assay was developed for fragile X molecular diagnosis, and FMR1 haplotype profiling and CGG repeat interspersion analysis was performed on Singapore's three major ethnic groups. Additionally, molecular analysis of the SCA2 gene was performed on a family segregating with both spinocerebellar ataxia type 2 and focal epilepsy, to investigate the possibility of a second gene mutation to account for the latter clinical presentation.