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Title: Molecular genetic studies of fragile X syndrome and spinocerebellar ataxia type 2
Keywords: trinucleotide repeat disease; fragile X syndrome; CGG repeat; methylation-specific PCR;
Issue Date: 13-Jan-2004
Citation: ZHOU YOUYOU (2004-01-13). Molecular genetic studies of fragile X syndrome and spinocerebellar ataxia type 2. ScholarBank@NUS Repository.
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.
Appears in Collections:Master's Theses (Open)

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