Studies on the Analysis of Single Nucleotide Polymorphisms in Hypervariable Regions of Human Mitochondrial DNA / 分析人類粒線體DNA高度變異區之單核�˙藻h型性之研究

碩士 / 輔英科技大學 / 醫事技術系碩士班 / 96 / Analysis of mitochondrial DNA (mtDNA) has been applied in several fields including the investigation of population, relevant disease and individual’s differentiation. In previous study, the hypervariable regions of mtDNA were analyzed with the PCR-RFLP. The power of discrimination was 0.84. On the bases of that not all polymorphic position could be analyzed with restriction enzyme, the SNP Genotyping Assay was applied in this study. In particular, the SNP Genotyping Assay can be analyzed with the instrument in high throughput. From previous study, 9 positions of SNP of were chosen. They were T489C, T16362C, C16223T, G16129A, T152C, T16172C, T16304C, T199C, and T16311C, respectively. The primers and probes for the 9 SNP were synthesized. Two hundred and fifty samples were subjected to perform the SNP Genotyping Assay. The results showed that several positions of SNP including T489C, T16362C, G16129A, T16304C, and T16311C were analyzed as well as the previous prediction. More than 90% of samples appear to be analyzed. In contrast, several positions of SNP including C16223T, T152C, T16172C, and T199C appear to be undetermined in examined samples. However, the samples could be typed as 29 haplotypes with a power of discrimination up to 0.94. In 29 haplotypes, four types appear to have high frequency in 42 %. The common genotype is 16129G/152T/16172T/16304T/199T/16311T. In addition, the other 25 haplotypes with the common genotype in 16129A/152C/16172C/16304C/199C/16311C appear to have low frequency and easy to be distinguished. In conclusion, the results indicated that the SNP Genotyping Assay was applied to analyze the hypervariable regions of mitochondrial DNA with the advantage in high throughput.

Identiferoai:union.ndltd.org:TW/096FY005527005
Date January 2008
CreatorsJing-jing Lai, 賴青青
ContributorsShiao-ping Huang, 黃小萍
Source SetsNational Digital Library of Theses and Dissertations in Taiwan
Languagezh-TW
Detected LanguageEnglish
Type學位論文 ; thesis
Format83

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