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dc.contributor.advisorArieff, Z.
dc.contributor.advisorKaur, M.
dc.contributor.authorGameeldien, Hajirah
dc.contributor.otherDept. of Biotechnology
dc.contributor.otherFaculty of Science
dc.date.accessioned2014-01-24T10:30:35Z
dc.date.available2011/02/15 09:44
dc.date.available2011/02/15
dc.date.available2014-01-24T10:30:35Z
dc.date.issued2009
dc.identifier.urihttp://hdl.handle.net/11394/2646
dc.descriptionMagister Scientiae - MScen_US
dc.description.abstractAutism is a pervasive developmental disorder (PDD) that's incidence is approximately 1 in 158. It is four times more prevalent in males than females and is believed to be caused by both genetic and environmental factors. Research indicates that several genes are involved in autism and it is believed that these genes act together to produce autism. Many genes implicated in this disorder are involved with brain structure formation and brain functioning. Studies have identified the reelin (RELN) gene as necessary for proper formation of brain, which indicates that RELN abnormalities could contribute to the aetiology of several neurogenetic diseases such as schizophrenia, bipolar and autism. The aims of the study were (i) to genotype two SNPs (exonic rs3622691 and intronic rs736707) in the RELN gene using Taqman® SNP Genotyping assays to detect association with autism in three distinct South African (SA) ethnic groups (Black, Caucasian and Mixed), and (ii) to detect candidate genes that are over and under-expressed in the samples taken from a SA Caucasian autistic group and compare those with samples taken from a healthy Caucasian group using cDNA microarray. The Taqman® study indicated significant association for the intronic SNP, rs736707, with a p-value of 0.0009 in the total SA group. More so, the Mixed group displayed the highest significance amongst the ethnic groups, with a p-value of 0.00014. The microarray study yielded 21 genes with 95% significance in the Caucasian sample group. Most genes were hypothetical proteins and formed part of the FAM90A family. The LOC83459 showed the highest level of expression in the autistic samples, while the BTNL8 gene was shown to be highly suppressed in the control samples.en_US
dc.language.isoenen_US
dc.publisherUniversity of the Western Capeen_US
dc.subjectAutismen_US
dc.subjectCandidate genesen_US
dc.subjectcDNA Microarrayen_US
dc.subjectReelin geneen_US
dc.subjectSNPsen_US
dc.subjectTaqmanen_US
dc.titleThe identification of candidate genes using cDNA microarray and the analysis of two SNPs of the reelin gene in a South African austistic populationen_US
dc.typeThesisen_US
dc.rights.holderUniversity of the Western Capeen_US
dc.description.countrySouth Africa


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