Composition of studies and genetic analysis of gallstone

• Main Authors: Zong-Yi, 郭宗益
• Other Authors: 潘惠錦
• Format: Others
• Language: zh-TW
• Published: 2010
• Online Access: http://ndltd.ncl.edu.tw/handle/29434165560872376617

碩士 === 中山醫學大學 === 生物醫學科學學系碩士班 === 98 === Gallstone is a common digestive disease. Its prevalence in Taiwan is approximately 20%. Gallstones can be divided into cholesterol stones and hemoglobin stones according to the composition. The thesis consists of three parts. First, we used the differential interference microscope and Fourier transform infrared spectroscopy to analyze the compositions of gallstones, and to classify the clinical gallstone specimens. Second, Gpbar1 gene knockout mice were resistant to cholesterol gallstone formation under excessive intake of cholesterol, indicating Gpbar1 gene function may be associated with the occurrence of gallstones. Therefore, we analyzed the coding sequence of the Gpbar1 gene from a total of 179 cases of cholesterol gallstone patients and non-cholesterol gallstone individuals. We found 4 cases with a same potential single nucleotide polymorphism (SNP), and two cases (one with hepatoma) with nucleotide variants that cause corresponding amino acid change of the Gpbar1 gene in the non-cholesterol gallstone group; on the other hand, a case with an amino acid-changing nucleotide variant was also found in the cholesterol gallstone patients. Interestingly, the altered amino acids found in the cases with hepatoma and cholesterol gallstone are in the highly conserved positions of the GPBAR1 protein. Moreover, the gallstone contains some fatty acids in addition to cholesterol and hemoglobin, as bile is made from the liver, we would like to know the relevance of liver fatty acid level and intrahepatic stone formation. Thus, I utilized the palmitic acid and stearic acid as standards to establish an analysis protocol for fatty acid derivation and high-performance liquid chromatography, for future detection of the fatty acid levels in liver specimens.