Medical Sciences Commons^™

A Linkage Study Of Autism Using Multipoint Sib-Pair Analysis, Tamara Rogers

Theses: Doctorates and Masters

Autism is a severe developmental disorder that was first described by Kanner in 1943. It is characterised by four major criteria: marked social deficits, delay in language development, a restricted range of stereotyped repetitive behaviours and onset of the disease within the first three years of life. The last decade of research has provided support for a strong genetic basis in the aetiology of autism. Firstly, a number of genetic conditions, such as fragile X syndrome, chromosome 15 anomalies and tuberous sclerosis, have been associated with autism. Secondly, family studies have demonstrated that the recurrence risk for autism among siblings …

Molecular Studies Of Splice Sites In The Canine Dystrophin Gene, Hayley Durling

Theses : Honours

The development of an effective therapy for Duchenne Muscular Dystrophy (DMD) is one of the primary goals of all DMD/Becker Muscular Dystrophy (BMD) research. Golden Retriever Muscular Dystrophy (GRMD), an animal model of DMD is a fatal degenerative myopathy. Unlike the mdx model, the GRMD dog more accurately reflects the phenotype shown by human DMG patients, making the model better suited for the investigation and assessment of potential therapeutic approaches. The GRMD mutation, a base change from A to G in the 3' splice acceptor site of intron 6, results in exon 7 skipping which disrupts the translational reading frame. …

A Systematic Evaluation Of Methods To Separate X- And Y- Bearing Sperm, Jacquelyn Irving

Theses: Doctorates and Masters

This project was initiated to determine if was possible to enrich either X- or Y- bearing sperm, and hence to preselect the sex of a child. Two of the possible reasons why couple might want to select the sex of a child are firstly because of a family history of an X-linked recessive genetic disorder, which usually only affect sons, and secondly families who have had several children of one sex. For this study, men with three or more children of the same sex were recruited following the publication of an article in The West Australian newspaper. The percentage of …

Exclusion Mapping Of Polycystic Kidney Disease: A Third Locus, Eoin Thompson

Theses: Doctorates and Masters

The aim of this research was to perform exclusion on a rare form of hereditary autosomal dominant polycystic kidney disease (ADPKD). To-date, two genes for ADPKD have been identified: PKDI which has been localized to the short arm of chromosome 16 and PKD2 which has been localized to the long arm of chromosome 4. However, a small number of families have been reported that have not shown linkage to either of these two loci, thus suggesting the existence of at least one additional locus (PKD3). Two families that are affected with ADPKD and do not show linkage to PKDI or …

The Role Of Fas And Fas Ligand In Apoptosis During Regression Of The Corpus Luteum, Sharon Roughton

Theses : Honours

Apoptosis, a form of physiological cell death, has been found to occur during regression of the corpus luteum (Juengel etal, 1993; Dharmarajan etal, 1994). The pathways involved in this process, however, have yet to be specified. One possible mediator of corpus luteum regression is the Fas (or AP0-1 or CD95) receptor, a transmembrane protein which induces apoptosis in the cell when ligated. In order to further confirm this hypolhesis, the present study establishes and quantitates the presence and regulation of Fas receptor and Fas ligand (Fasl) in the rat corpus luteum during pregnancy and post-partum. The animals used were sexually …

Localisation And Detection Of A Polymorphism In The Human Skeletal Beta-Tropomyosin Gene (Tpm2), Clive C.J. Hunt

Theses : Honours

Tropomyosin is one of the components of the thin filaments of muscle, binding to actin, and, together with troponin, regulating contraction in a calcium-dependent manner (Cho et al.,1990). There are at least four distinct tropomyosin genes in vertebrates and each may encode at least six different isoforms of tropomyosin by alternate splicing (Novy et al, 1993; MacLeod et al., 1988). The alpha-tropomyosin gene TPM1 has recently been localised to 15q22 (Eyre et al, 1994) and has been shown to be mutated in some cases of familial hypertrophic cardiomyopathy (Thierfelder et al., 1994). The alpha-tropomyosin gene TPM3 has been recently localised …

Bone Density And Muscle Development Problems In Female Lightweight Rowers Trying To Make-Weight, Carmel A. Shipway

Theses : Honours

The purpose of this study was to determine whether high intensity exercise, combined with restriction of diet, is counter-productive to the normal health and development of the competitor. The study investigated the effects of high intensity exercise on body composition (fat, muscle and bone); bone density; and physical performance (aerobic capacity, rowing performance, quadricep strength, power and fatiguability) in twelve lightweight female rowers (age range 17- 25yrs), training for the State and National lightweight championships. Six of the rowers completed the testing, which consisted of test1 (pre-training) and test2 (post-training) after a 12 weeks training regime.

Skinfold measurements were lower …

Detection Of Point Mutations In The Dystrophin Gene, John Pedretti

Theses : Honours

The dystrophin gene has been localised to Xp 21.1. Mutations of this gene can lead to the clinical manifestations of Duchenne and Becker muscular dystrophies (DMD/BMD). In the majority of DMD and BMD patients the disease-causing mutation is a deletion detectable by southern analysis or multiplex PCR, however in 30% of patients no deletion is observed using these conventional tests. Using PCR amplification of cDNA it was possible to detect a deletion in the product of the dystrophin gene of one such individual affected with BMD. It was then necessary to characterise the mutation in order to determine whether this …