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A Biobank for Long-term and Sustainable research in the Field of Congenital Heart Disease in Germany

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Genomics, Proteomics & Bioinformatics 2016年第4期14卷 181-190页

作者： Thomas Pickardt Eva Niggemeyer Ulrike M.M.Bauer Hashim Abdul-Khaliq Competence Network for Congenital Heart Defects Investigators National Register for Congenital Heart Defects 13353 BerlinGermany Saarland University Medical Center Department of Paediatrie Cardiology66421 HomburgGermany Competence Network for Congenital Heart Defects 13353 BerlinGermany

Congenital heart disease （CHD） is the most fi＇equent birth defect （0.8% 1% of all live births）. Due to the advance in prenatal and postnatal early diagnosis and treatment, more than 90% of these patients survive into adulthood today. However, several mid- and long-term morbidi- ties are dominating the follow-up of these patients. Due to the rarity and heterogeneity of the phenotypes of CHD, multicenter registry-based studies are required. The CHD-Biobank was established in 2009 with the aim to collect DNA from patients and their parents （trios） or fi＇om affected families, as well as cardiovascular tissues from patients undergoing corrective heart surgery for cardiovascular malformations. Clinical/phenotype data are matched to the International Paediatric and Congenital Cardiac Code （IPCCC） and the International Statistical Classification of Diseases and Related Health Problems 10th Revision （ICD-10）. The DNA collection currently comprises samples from approximately 4200 participants with a wide range of CHD phenotypes. The collection covers about 430 trios and 120 families with more than one affected member. The cardiac tissue collection comprises 1143 tissue samples [Yore 556 patients alter open heart surgery. The CHD-Biobank provides a comprehensive basis for research in the field of CHD with high standards of data privacy, IT management, and sample logistics.

关键词： Congenital heart defects Multi-center research Biorepository genetic research DNA

genetic Analysis of ele Mutants and Comparative Mapping of ele1 Locus in the Control of Organ Internal Asymmetry in Garden Pea

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Journal of Integrative Plant Biology 2010年第6期52卷 528-535页

作者： Xin Li Li-Li Zhuang Mike Ambrose M. Phil. Catherine Rameau Xiao-He Hu Jun Yana Da Luo School of Life Science and Biotechnology Shanghai JiaoTong University Shanghai 200030 China Department of Crop genetics John Innes Centre Colney Norwich NR4 7UH United Kingdom Station de Genetique et d'Amelioration des Plantes Institut J.P. Bourgin UR 254 INRA Versailles France National Key Laboratory of Plant Molecular genetics Institute of Plant Physiology and Ecology Shanghai Institutes for Biologica Sciences the Chinese Academy of Sciences Shanghai 200032 China

Previous study has shown that during zygomorphic development in garden pea （Pisum sativum L.）, the organ internal （IN） asymmetry of lateral and ventral petals was regulated by a genetic locus, SYMMETRIC PETAL 1 （SYP1）, while the dorsoventral （DV） asymmetry was determined by two CYC-like TCP genes or the PsCYC genes, KEELED WINGS （K） and LOBED STANDARD 1 （LST1）. In this study, two novel loci, ELEPHANT EAR-LIKE LEAF 1 （ELE1） and ELE2 were characterized. These mutants exhibit a similar defect of IN asymmetry as syp1 in lateral and ventral petals, but also display pleiotropic effects of enlarged organ size. genetic analysis showed that ELE1 and ELE2 were involved in same genetic pathway and the enlarged size of petals but not compound leaves in e/e2 was suppressed by introducing k and Ist1, indicating that the enlargement of dorsal petal in e/e2 requires the activities of K and LST1. An experimental framework of comparative genomic mapping approach was set up to map and clone LjELE1 locus in Lotus japonicus. Cloning the ELE1 gene will shed light on the underlying molecular mechanism during zygomorphic development and further provide the molecular basis for genetic improvement on legume crops.

关键词： genetic research PEAS geneticS FOLIAR diagnosis LOCUS (genetics) COMPARATIVE genomic hybridization LEGUMES

Effect of estrogen on gene expression of fatty acid synthase in periosteum

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Chinese Medical Journal 2009年第15期122卷 1775-1779页

作者： ZHENG Rui-min LIN Shou-qing LIU Yong HUANG Man-ting GONG Wei-yan WU Zhi-hong Department of Obstetrics and Gynecology Peking Union Medical College Hospital Chinese Academy of Medical Sciences & Peking Union Medical College Beijing 100730 China Department of Orthopaedics Peking Union Medical College Hospital Chinese Academy of Medical Sciences & Peking Union Medical College Beijing 100730 China

Background Estrogen deficiency contributes to postmenopausal osteoporosis. Periosteum might be a potential target of estrogen, but the underlying mechanism at gene level is far from being elucidated. The objective of this study was to investigate the correlation between estrogen and fatty acid synthase （FAS） expression in periosteum. Methods Human periosteum cells were cultured in vitro. Expressed genes in the substrated cDNA library were verified using semi-quantitative PCR and real-time PCR. The expression of FAS in periosteum of ovarectomized （OVX） SD rats was investigated. Results FAS gene was most significantly expressed in the subtracted cDNA library of periosteal cells screened by semi-quantitative PCR. Low FAS expression was verified by real-time PCR in the estrogen exposed human periosteum rather than in the control. The estradiol levels were （20.81±12.62） pg/ml, （19.64±4.35） pg/ml and （13.47±1.84） pg/ml in the sham group, the control, and the OVX group, respectively. The estradiol levels in the OVX group was significantly lower （P=-0.0386）. The FAS gene expression in periosteum in the OVX group, sham group, and control group was 3.09±1.97, 1.33±0.47 and 1.51±1.32, respectively. The gene expression in the OVX group was significantly higher （P=0.0372）. Conclusion Estrogen modulates FAS gene expression in in vitro human perisoteum as well as in in vivo rat periosteum.

关键词： estradiol genetic research fatty acid synthase complex osteoporosis periosteum

Why Pandas Are Pandas

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Beijing Review 2008年第43期51卷 44-44页

作者： JING XIAOLEI

Chinese scientists have mapped the genome of the giant panda, which could lead to a better understanding of the endangered

关键词： GENE mapping GIANT panda GENOMES genetic research