摘要
了解线粒体神经消化道脑肌病(mitochondrial neurogastrointestinal encephalomyopathy,MNGIE)家系中线粒体基因和胰蛋白酶原基因(cationic trypsinogen gene,PRSS1)的突变情况。对一MNGIE家系和60例健康体检者的mtDNA和PRSS1基因进行PCR扩增,产物纯化后直接测序,同时收集患者的一般临床资料。家系中3例糖尿病患者(Ⅰ2、Ⅱ2、Ⅲ1)均发现mtDNA A3243G突变,先证者表现出明显的神经精神症状并伴发慢性胰腺炎和糖尿病,血浆乳酸水平明显高于正常对照;2例胰腺炎患者(Ⅰ2、Ⅱ2)中发现IVS 3+75 G>
To investigate the mutations of mitochondrial genes and cationic trypsinogen gene in one pedigree with mitochondrial neurogastrointestinal encephalomyopathy （MNGIE）. Polymerase chain reaction （PCR） and sequencing were conducted to screen for the mutations of mitochondrial genes and cationic trypsinogen gene in the MNGIE pedigree and 60 cases of healthy controls, while the patient＇s general clinical data was collected, mtDNA A3243G mutation was found in 3 cases of diabetes （ I 2, II 2, III1 ） in the pedigree and significant neuropsyehiatric symptoms associated with chronic pancreatitis and diabetes also be exhibited in the proband. Moreover, the proband＇s plasma lactate level was significantly higher than normal controls. Meanwhile, IVS 3 ＋ 75 G 〉 A mutation in cationic trypsinogen gene was also found in the 2 cases of acute pancreatitis patients （ I 2, II 2 ）.
出处
《中国优生与遗传杂志》
2013年第12期15-17,20,F0004,共5页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金(81201362和81201590)
福建省自然科学基金(2013J1023)
福建省医学创新课题(2012-CXB-21)
福建省教育厅面上项目(JA10143
JA12143)
福建省高校杰出青年基金(JA12133)
国家高新技术基础研究863计划(2012AA022604)
福建省大学生创新性实验(265
315
317)支持
