CAJ | 학술논문

目的对梗阻性黄疸患者mtDNA片段的缺失及突变进行分析,为探讨mtDNA缺失及突变在胆汁淤积性肝损伤的作用机制打下基础.方法严格按照入组条件随机选取梗阻性黄疸患者30例(病例组)和对照组10例,利用17对相互错配重叠的引物进行PCR扩增,并结合大量基因测序结果对梗阻性黄疸患者肝细胞mtDNA的损伤缺失情况进行初步定位.结果梗阻性黄疸患者肝部分细胞mtDNA分别出现8429～9591约1.1 kb,16024～60约0.6 kb、1889～3031约1.1 kb的片段缺失和4977 bp片段的共同缺失,以及D-loop区的部分碱基的高突变.结论梗阻性黄疸患者mtDNA存在多片段缺失及多点突变.
목적 대경조성황달환자mtDNA편단적결실급돌변진행분석,위탐토mtDNA결실급돌변재담즙어적성간손상적작용궤제타하기출.방법 엄격안조입조조건수궤선취경조성황달환자30례(병례조)화대조조10례,이용17대상호착배중첩적인물진행PCR확증,병결합대량기인측서결과대경조성황달환자간세포mtDNA적손상결실정황진행초보정위.결과 경조성황달환자간부분세포mtDNA분별출현8429～9591약1.1 kb,16024～60약0.6 kb、1889～3031약1.1 kb적편단결실화4977 bp편단적공동결실,이급D-loop구적부분감기적고돌변.결론 경조성황달환자mtDNA존재다편단결실급다점돌변.
Objective To lay the foundation for analyzing the mechanism of liver cell injury caused by mtDNA deletion and mutation in patients with obstructive jaundice. Methods 30 patients were randomly selected as obstructive jaundice group (case group) and 10 patients as control group according to the strict condition. Author makes use of the methods of PCR amplification of the entire human mitochondrial genome in 17 mismatch-specific overlapping fragments and gene sequencing results to Preliminary estimate the localizathion of hepatocyte mtDNA damage in patients with obstructive jaundice. Result Deletions and length of partial liver cells were 8429-9591 of about 1. 1 kb, 16024-60 of about 0. 6 kb, 1889-3031 of about 1. 1 kb and 4977bps common deletion and the high mutation rate of some bases in D-loop region. Conclusion There are multiple mtDNA deletions and multiple point mutations in patients with obstructive jaundice