1.Objective,The Luang Prabang(Laos)-Loei(Thailand)metallogenetic belt,located along the northwestern margin of the Indochina Block(Fig.1a)and endowed nearly 200 t of gold and more than 106 t of copper,is one of the mo...1.Objective,The Luang Prabang(Laos)-Loei(Thailand)metallogenetic belt,located along the northwestern margin of the Indochina Block(Fig.1a)and endowed nearly 200 t of gold and more than 106 t of copper,is one of the most important gold-copper metallogenic belts in Indo-China Peninsula.It has undergone tectonic changes during the Early Paleozoic to Mesozoic Proto-Paleo Tethys tectonic evolution,recorded by the Luang Prabang tectonic belt,the Nan-Uttaradit suture,and the Dien Bien Phu-Loei suture.展开更多
Zircon U-Pb dating, Lu-Hf isotopic and geochemical data for the Silurian rhyolites from the Loei fold belt are presented to constrain their petrogenesis and tectonic settings. The rhyolites give a weighted mean 206Pb/...Zircon U-Pb dating, Lu-Hf isotopic and geochemical data for the Silurian rhyolites from the Loei fold belt are presented to constrain their petrogenesis and tectonic settings. The rhyolites give a weighted mean 206Pb/238 U age of 423.7±2.7 Ma, and are characterized by high SiO2, Al2O3, K2 O and low MnO, MgO and P2O5. All samples are enriched in LILEs（e.g., Ba, K, Pb） and LREEs and depleted in HFSEs（e.g., Nb, Ta, Ti） with obvious negative Eu-anomalies（δEu=0.56–0.63）. The calc-alkaline rhyolites are typical arc-related rocks. The Loei rhyolites have high A/CNK ratios（1.19–1.34） and positive εHf（t）（4.03–5.38）, which can be interpreted as partial melting of juvenile crustal materials followed by multistage melting and differentiation, similar to highly fractional I-type rocks. Combined with regional geological surveys, the Loei rhyolites should be formed in a volcanic arc environment and may be in contact with the Truong Son fold belt during the Early Paleozoic. Moreover, the Simao Block might be in contiguity with the Indochina Block during Silurian.展开更多
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular m...The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.展开更多
目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关...目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关基因,应用Sanger测序对患者及家系成员的疑似致病位点进行检测。依据根据美国医学遗传学与基因组学学会(American College of Medical Geneticsand Genomics,ACMG)遗传变异分类标准与指南判定变异的致病性。结果二代测序结果显示患者的TGFBR1基因(NM_001130916.3)存在c.830T>C杂合变异,而家系正常成员均未检出该变异。SIFT.PolyPhen2和MutationTaster软件分析预测该变异为有害变异,可能导致编码蛋白结构和功能破坏。依据ACMG指南,该变异为可能致病(PM1+PM2+PM6+PP3+PP4)。结论TGFBR1基因c.830 T>C变异可能是该患者致病的原因,基因测序结果为临床诊断和遗传咨询提供了理论依据。展开更多
基金supported by the National Natural Science Foundation of China(Grant No.42102113)the National Key Research and Development Program of China(Grant No.2021YFC2901803)+1 种基金the China Geological Survey Project(Grant No.DD20230579)China Scholarship Council(File No.202108575008).
文摘1.Objective,The Luang Prabang(Laos)-Loei(Thailand)metallogenetic belt,located along the northwestern margin of the Indochina Block(Fig.1a)and endowed nearly 200 t of gold and more than 106 t of copper,is one of the most important gold-copper metallogenic belts in Indo-China Peninsula.It has undergone tectonic changes during the Early Paleozoic to Mesozoic Proto-Paleo Tethys tectonic evolution,recorded by the Luang Prabang tectonic belt,the Nan-Uttaradit suture,and the Dien Bien Phu-Loei suture.
基金supported by the NSFC(Nos.41172202 and 41190073)the China Geological Survey(No.1212011121256)+1 种基金the Ministry of Education of China(No.20110145130001)the State Key Laboratory of Geological Processes and Mineral Resources,China University of Geosciences in Wuhan(No.MSFGPMR201402)
文摘Zircon U-Pb dating, Lu-Hf isotopic and geochemical data for the Silurian rhyolites from the Loei fold belt are presented to constrain their petrogenesis and tectonic settings. The rhyolites give a weighted mean 206Pb/238 U age of 423.7±2.7 Ma, and are characterized by high SiO2, Al2O3, K2 O and low MnO, MgO and P2O5. All samples are enriched in LILEs（e.g., Ba, K, Pb） and LREEs and depleted in HFSEs（e.g., Nb, Ta, Ti） with obvious negative Eu-anomalies（δEu=0.56–0.63）. The calc-alkaline rhyolites are typical arc-related rocks. The Loei rhyolites have high A/CNK ratios（1.19–1.34） and positive εHf（t）（4.03–5.38）, which can be interpreted as partial melting of juvenile crustal materials followed by multistage melting and differentiation, similar to highly fractional I-type rocks. Combined with regional geological surveys, the Loei rhyolites should be formed in a volcanic arc environment and may be in contact with the Truong Son fold belt during the Early Paleozoic. Moreover, the Simao Block might be in contiguity with the Indochina Block during Silurian.
文摘The Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is associated with vascular abnormalities, including aggressive aortic aneurysms, as well as skeletal and craniofacial malformations. The molecular mechanism of this syndrome remains to be fully elucidated. In this case, we describe a 29-year-old woman, gravida 2 para 1, who was referred for consultation after urinary tract malformations were observed during her mid-gestation anatomic survey. Following referral to our unit, ultrasound examination of the 21-week fetus was repeated. The fetus was observed to have a dilated aortic root and a poorly ossified sternum with mild pectus deformity. After elective termination, single nucleotide polymorphism microarray testing identified a novel 204 kb microdeletion involving the short arm of chromosome 3. The deleted genetic material included 4 exons of the TGFBR2 gene. Although the phenotype of LDS may be caused by haploinsufficiency of the TGFBR1 or TGFBR2 gene, our experience suggests a more complex picture of LDS. The study of such cases might further elucidate its pathogenesis.
文摘目的对1例超声心动图提示为主动脉根部瘤及主动脉瓣关闭不全的患者进行基因检测,明确其可能的致病变异,为临床诊断和遗传咨询提供依据。方法应用二代测序技术对先证者进行全外显子组测序,重点分析主动脉瘤疾病及其他循环系统遗传病相关基因,应用Sanger测序对患者及家系成员的疑似致病位点进行检测。依据根据美国医学遗传学与基因组学学会(American College of Medical Geneticsand Genomics,ACMG)遗传变异分类标准与指南判定变异的致病性。结果二代测序结果显示患者的TGFBR1基因(NM_001130916.3)存在c.830T>C杂合变异,而家系正常成员均未检出该变异。SIFT.PolyPhen2和MutationTaster软件分析预测该变异为有害变异,可能导致编码蛋白结构和功能破坏。依据ACMG指南,该变异为可能致病(PM1+PM2+PM6+PP3+PP4)。结论TGFBR1基因c.830 T>C变异可能是该患者致病的原因,基因测序结果为临床诊断和遗传咨询提供了理论依据。
