- 期刊
Molecular Genetics of Mitochondrial DNA Disorders
粒脾體疾病的分子遺傳
並列摘要
Diagnosis of mitochondrial disorders has been difficult due to the clinical and genetic heterogeneity, as well as unique features of mitochondrial genetics. Definitive diagnosis requires the identification of molecular defects in either the mitochondrial or the nuclear genome. We describe the clinical symptoms characteristic of certain mitochon-drial syndromes and PCR-based methodologies available for the detection of known common point mutations. Several indirect methods for the detection of unknown mutations are also described. Large deletions can be detected by Southern blot analysis. The utility of real time quantitative PCR in the determination of mitochondrial DNA content is discussed. This review provides overview of current understanding of the molecular genetics of mitochondrial disor-ders that is useful in genetic counseling and molecular testing.
延伸閱讀
- Ng, K. W., Ng, C. K., Jiang, C. F., Wu, K. Y., & Wang, C. C. (1989). 續發性脾臟腫瘤－兩病例報告. Journal of Medical Sciences, 9(6), 413-420. https://www.airitilibrary.com/Article/Detail?DocID=10114564-198912-201308050002-201308050002-413-420
- Tsai, C. C., Lin, C. K., Lo, G. H., Lai, K. H., Hsu, P. I., Mok, K. T., & Pan, H. B. (1998). 脾組織異位症疑似腸系膜腫瘤：一病例報告. 中華民國消化系醫學雜誌, 15(2), 151-155. https://doi.org/10.6557/GJTb.199806_15(2).0005
- Wu, T. T. (2011). 急性肺損傷的疾病生理學機轉: 類鐸受體或GATA-2 轉錄因子在巨噬細胞和上皮細胞活化過程所扮演的角色探討 [doctoral dissertation, Taipei Medical University]. Airiti Library. https://www.airitilibrary.com/Article/Detail?DocID=U0007-2807201115021900
- Yen, C. K., Kuo, P. J., & Lin, H. J. (2011). 脾臟邊緣的淋巴瘤以自發性脾臟破裂為初始表現個案報告. 中華民國急救加護醫學會雜誌, 22(3), 129-132. https://doi.org/10.30018/JECCM.201109.0005
- Chen, Y. W., Wang, C. K., Huang, Y. F., Wang, W. M., & Liu, G. C. (1999). 以鎝-99m標幟熱破壞紅血球核醫造影鑒別診斷脾官能過旺及胃腫瘤在上消化道出血病人-病例報告. 核子醫學雜誌, 12(4), 201-205. https://www.airitilibrary.com/Article/Detail?DocID=1022923x-199912-12-4-201-205-a