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Memorial University - Electronic Theses and Dissertations 5
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Document Description
TitleNarrowing of the autosomal recessive polycystic kidney disease critical region in a Newfoundland family
AuthorFrost, Toby, 1974-
DescriptionThesis (M.Sc.)--Memorial University of Newfoundland, 2000. Biochemistry
Paginationxv, 133 leaves : ill.
SubjectPolycystic kidney disease--Newfoundland and Labrador--Genetic aspects
Degree GrantorMemorial University of Newfoundland. Dept. of Biochemistry
Spatial CoverageCanada--Newfoundland and Labrador
NotesBibliography: leaves 82-97.
AbstractA Newfoundland family, consisting of three nuclear families, was identified as having polycystic kidney and liver disease and found to be descended from two founding ancestral pairs. Using homozygosity mapping with polymorphic microsatellite markers, three disease loci, NPH-1, -2 and mouse bpk/jcpk were excluded and linked the disease in sibships A and B to the ARPKD disease loci on chromosome 6. Due to a meiotic recombination in one of the individuals in sibship A, the ARPKD critical region was narrowed to a 1cM region. The disease in sibship C was not linked to either of the abovementioned loci and kidney ultrasound suggested that the disease was not ADPKD. Because the gene which causes ARPKD is, as yet, unknown, it was necessary to attempt to identify it through positional cloning. A PAC contiguous map was constructed to allow the examination of smaller, individual pieces of DNA within the region. Each clone was subcloned and screened for microsatellites. Three were identified however none was variable in this family. The complete sequence of clone 108c2 had been published to the public domain and examination revealed a large repeat region which was analyzed and found to be polymorphic. This marker allowed the ARPKD region to be further refined to an area of approximately 560kb in size, completely covered by PAC clones. This region contains 10 known gene-oriented clusters representing different transcripts including NFYA, TFAP2B, MDFI and APOBEC2 ( UniGene).
Resource TypeElectronic thesis or dissertation
FormatImage/jpeg; Application/pdf
SourcePaper copy kept in the Centre for Newfoundland Studies, Memorial University Libraries
RightsThe author retains copyright ownership and moral rights in this thesis. Neither the thesis nor substantial extracts from it may be printed or otherwise reproduced without the author's permission.
CollectionElectronic Theses and Dissertations
Scanning StatusCompleted
PDF File(16.81 MB) --
CONTENTdm file name23414.cpd