Background：The most typical cardiac abnormality is conotruncal defects （CTDs） in patients with 22q11 deletion syndrome （22q11DS）.HIRA （histone cell cycle regulator） gene,as one of the candidate genes located at...Background：The most typical cardiac abnormality is conotruncal defects （CTDs） in patients with 22q11 deletion syndrome （22q11DS）.HIRA （histone cell cycle regulator） gene,as one of the candidate genes located at the critical region of 22q11DS,was reported as possibly relevant to CTD in animal models.This study aimed to analyze the level of expression of the HIRA gene in tetralogy of Fallot （TOF） patients and the potential DNA sequence variations in the promoter region.Methods：The messenger RNA （mRNA） expression was examined with quantitative real-time polymerase chain reaction in 39 myocardial tissues of the right ventricular outflow tract （RVOT） from TOF patients and 4 myocardial tissues of RVOT from noncardiac death children.The protein expression was detected using immunohistochemistry in 12 TOF patients and 4 controls.A total of 100 TOF cases and 200 healthy controls were recruited for DNA sequencing.Results：The mRNA and protein expressions of the HIRA gene in the myocardium of the TOF patients were both significantly lower as compared to the controls （P 〈 0.05）.Five single nucleotide polymorphisms （SNPs）,including g.4111A〉G （rs1128399）,g.4265C〉A （rs4585115）,g.4369T〉G （rs2277837）,g.4371C〉A （rs148516780）,and g.4543T〉C （rs111802956）,were found in the promoter region of the HIRA gene.There were no significant differences of frequencies in these SNPs between the TOF patients and the controls （P 〉 0.05）.Conclusion：The abnormal lower expression of the HIRA gene in the myocardium may participate in the pathogenesis of TOF.展开更多
Low saline aqueous carbonic fluids are considered to be the ore forming solutions for orogenic lode gold deposits.Phase separation/fluid immiscibility of the ore fluid is quite common and is one of the major reasons f...Low saline aqueous carbonic fluids are considered to be the ore forming solutions for orogenic lode gold deposits.Phase separation/fluid immiscibility of the ore fluid is quite common and is one of the major reasons for deposition of gold in these deposits.Abundant carbonic fluid inclusions have been observed in quartz grains of Hira-Buddnini Gold Deposit.Theoretical estimation indicates that more volume of H2O compared to CO2 is likely to be trapped in inclusions at different P-T conditions.Preferential loss of H2O from fluid inclusions during ductile deformation of quartz grains have been attributed as the suitable reason for abundance of carbonic fluid inclusions.展开更多
基金This work was supported by grants from the Natural Science Foundation of China （No. 81370198, No. 81570283） and National Key Research and Development Program （No. 2016YFC 1000500）.
文摘Background：The most typical cardiac abnormality is conotruncal defects （CTDs） in patients with 22q11 deletion syndrome （22q11DS）.HIRA （histone cell cycle regulator） gene,as one of the candidate genes located at the critical region of 22q11DS,was reported as possibly relevant to CTD in animal models.This study aimed to analyze the level of expression of the HIRA gene in tetralogy of Fallot （TOF） patients and the potential DNA sequence variations in the promoter region.Methods：The messenger RNA （mRNA） expression was examined with quantitative real-time polymerase chain reaction in 39 myocardial tissues of the right ventricular outflow tract （RVOT） from TOF patients and 4 myocardial tissues of RVOT from noncardiac death children.The protein expression was detected using immunohistochemistry in 12 TOF patients and 4 controls.A total of 100 TOF cases and 200 healthy controls were recruited for DNA sequencing.Results：The mRNA and protein expressions of the HIRA gene in the myocardium of the TOF patients were both significantly lower as compared to the controls （P 〈 0.05）.Five single nucleotide polymorphisms （SNPs）,including g.4111A〉G （rs1128399）,g.4265C〉A （rs4585115）,g.4369T〉G （rs2277837）,g.4371C〉A （rs148516780）,and g.4543T〉C （rs111802956）,were found in the promoter region of the HIRA gene.There were no significant differences of frequencies in these SNPs between the TOF patients and the controls （P 〉 0.05）.Conclusion：The abnormal lower expression of the HIRA gene in the myocardium may participate in the pathogenesis of TOF.
文摘Low saline aqueous carbonic fluids are considered to be the ore forming solutions for orogenic lode gold deposits.Phase separation/fluid immiscibility of the ore fluid is quite common and is one of the major reasons for deposition of gold in these deposits.Abundant carbonic fluid inclusions have been observed in quartz grains of Hira-Buddnini Gold Deposit.Theoretical estimation indicates that more volume of H2O compared to CO2 is likely to be trapped in inclusions at different P-T conditions.Preferential loss of H2O from fluid inclusions during ductile deformation of quartz grains have been attributed as the suitable reason for abundance of carbonic fluid inclusions.
