| Summary: | 碩士 === 國立中正大學 === 資訊工程所 === 98 === Translocation polymorphism is a form of positional variations which may disrupt the gene structure and associate with many genetic diseases. Traditional cytogenetic methods are laborious and expensive for charactering translocation polymorphisms in the entire human genome. Nevertheless, recent findings showed that translocations usually leave footprints in the population haplotypes, which provides a new direction for uncovering translocation polymorphisms. In this thesis, we develop methods and statistic to detect translocation polymorphisms in human populations. The translocated and non-translocated haplotypes within each translocation are distinguished, and statistical significance of each translocation is assessed. Simulation indicates that our method has high detection power and low false positive rate to recognize translocations. On the HapMap Phase 2 data, we identify 39 interchromosomal and 77 intrachromosomal translocation polymorphisms with translocation frequency ranging from 9% to 100%. A significantly portion (85%) of identified interchromosomal translocations are overlapped with known copy number variations (CNVs). Our results indicate that these CNVs are probably mediated by Mendelian inheritance of balanced/unbalanced translocations rather than by deletions and duplications. And copy number of these CNVs would be quite unstable.
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