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- Lovmar, Lovisa,1977-Uppsala universitet,Institutionen för medicinska vetenskaper (author)
Methods for Analysis of Disease Associated Genomic Sequence Variation
- BookEnglish2004
Publisher, publication year, extent ...
- Uppsala :Acta Universitatis Upsaliensis,2004
- 89 s.
- electronicrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:uu-4525
- ISBN:9155460275
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4525URI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Series
- Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine,0282-7476 ;1371
Notes
- In Molecular Medicine a wide range of methods are applied to analyze the genome to find genetic predictors of human disease. Apart from predisposing disease, genetic variations may also serve as genetic markers in the search for factors underlying complex diseases. Additionally, they provide a means to distinguish between species, analyze evolutionary relationships and subdivide species into strains. The development and improvement of laboratory techniques and computational methods was a spin-off effect of the Human Genome Project. The same techniques for analyzing genomic sequence variations may be used independent of organism or source of DNA or RNA. In this thesis, methods for high-throughput analysis of sequence variations were developed, evaluated and applied. The performance of several genotyping assays were investigated prior to genotyping 4000 samples in a co-operative genetic epidemiological study. Sequence variations in the estrogen receptor alpha gene were found to be associated with an increased risk of breast and endometrial cancer in Swedish women.Whole genome amplification (WGA) enables large scale genetic analysis of sparse amounts of biobanked DNA samples. The performance of two WGA methods was evaluated using four-color minisequencing on tag-arrays. Our in-house developed assay and “array of arrays” format allow up to 80 samples to be analyzed in parallel on a single microscope slide. Multiple displacement amplification by the Φ29 DNA polymerase gave essentially identical genotyping results as genomic DNA. To facilitate accurate method comparisons, a cluster quality assessment approach was established and applied to assess the performance of four commercially available DNA polymerases in the tag-array minisequencing assay. A microarray method for genotyping human group A rotavirus (HRV) was developed and applied to an epidemiological survey of infectious HRV strains in Nicaragua. The method combines specific capture of amplified viral sequences on microarrays with genotype-specific DNA-polymerase mediated extension of capture oligonucleotides with fluorescent dNTPs.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
- Molecular medicine
- microarray
- molecular medicine
- single nucleotide polymorphism
- whole genome amplification
- breast cancer
- endometrial cancer
- human rotavirus
- Molekylärmedicin
- Molecular medicine (genetics and pathology)
- Molekylär medicin (genetik och patologi)
Added entries (persons, corporate bodies, meetings, titles ...)
- Syvänen, Ann-Christine (thesis advisor)
- Kwok, Pui-Yan,ProfessorCardiovascular Research Institute, University of California, San Francisco (opponent)
- Uppsala universitetInstitutionen för medicinska vetenskaper (creator_code:org_t)
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