SUMMARY Since the 1980 s nitric oxide (NO), carbon monoxide (CO) and hydrogen sulfide (H2S), the endogenous gas molecules produced from metabolic pathway, have been realized as signal molecules to be involved in the regulation of body homeostasis and to play important roles under physiological and pathophysiological conditions. The researches on these endogenous gas signal molecules opened a new avenue in life science. To explore the new member of gasotransmitter family, other endogenous gas molecules which have been regarded as metabolic waste up to date, and their biological regulatory effects have been paid close attention to in the current fields of life science and medicine. Sulfur dioxide (SO2) can be produced endogenously from normal metabolism of sulfur-containing amino acids. L-cysteine is oxidized via cysteine dioxygenase to L-cysteinesulfinate, and the latter can proceed through transamination by glutamate oxaloacetate transaminase (GOT) to β-sulfinylpyruvate which decomposes spontaneously to pyruvate and SO2. In mammals, activated neutrophils by oxidative stress can convert H2S to sulfite through a reduced form of nicotinamide-adenine dinucleotide phosphate (NADPH) oxidase-dependent process. The authors detected endogenous production of SO2 in all cardiovascular tissues, including in heart, aorta, pulmonary artery, mesenteric artery, renal artery, tail artery and the plasma SO2 content. As the key enzyme producing SO2, GOT mRNA in cardiovascular system was detected and found to be located enrichedly in endothelial cells and vascular smooth muscle cells near the endothelial layer.When the normal rats were treated with hydroxamate(HDX), a GOT inhibitor, at a dose of 3.7 mg/kg body weight, the blood pressure (BP) went high markedly, the ratio of wall thickness to lumen radius was increased by 18.34%, and smooth muscle cell proliferation was enhanced. The plasma SO2 level in the rats injected with 125 μmol/kg body weight SO2 donor was increased to 721.98±30.11 μmol/L at the end of 30 seconds, while th
目的探讨染色体微阵列分析(chromosomal microarray analysis,CMA)技术中的亲缘分析在判断基因组拷贝数变异(copy number variations,CNVs)临床意义中的作用。方法本研究为回顾性研究。收集2017年11月至2019年12月在北京大学第一医院实验中心行产前诊断的73例核心家系的临床资料。检测指征包括超声异常54例(其中伴颈部透明层厚度≥2.5 mm 12例,胎儿生长受限4例,既往不良孕产史7例,单纯超声异常31例),无创产前基因检测高风险4例,高龄妊娠9例,单纯既往不良孕产史3例,胎死宫内2例,孕妇智力障碍1例。使用基因组DNA提取试剂盒提取羊水细胞、绒毛、脐血、胎儿组织和胎心血DNA。采用基于微阵列的比较基因组杂交技术和单核苷酸多态性微阵列技术分析73例产前样本CNVs。取孕妇及其丈夫(必要时相关亲属)外周血DNA做相同检测。总结CMA亲缘检测结果。采用描述性统计分析。结果73例样本共检出76个CNVs,其中检出9个致病性CNVs,经过亲缘检测分析后6个为新发变异,2个母源,1个父源;检出6个可能致病性CNVs,3个为新发变异,2个母源,1个父源;检出20个临床意义不明的CNVs,5个父源,3个母源,其余12个为新发变异;41个可能良性CNVs,其中38个来自表型正常的父母。结论产前诊断时亲缘分析对胎儿CNVs的临床意义解读有重要意义,可以帮助判断CNVs的临床意义和再生育风险。
