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《Journal of Applied Clinical Pediatrics》 2005-10
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Relationship between Spondyloppiphyseal Dysplasia Tarda Gene Escaping X Chromosome Inactivation and Spondyloppiphyseal Dysplasia Tarda Phenotype

GAO Qiao, WANG Huai - li,LUO Qiang, SHENG Guang - yao, ZHOU Jia,, - hua, GAO Tie - zheng ( The Children's Hospital of Zhengzhou, Zhengzhou 450053, China; Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)  
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype. Methods RT - PCR was performed on total RNA which was isolated from blood samples of patients, female carriers and controls. Patients and female carriers were selected from the pedigree with SEDL caused by the mutation (IVS2 - 2A→C) of the gene. cDNA was analyzed by polyacrylamide gelelectrophoresis(PAGE). Results PAGE data indicateed that female carriers expressed both normal and mutant SEDL mRNA,meaning the SEDL gene escaping XCI. Family investigation showed carrier females in the SEDL pedigree presented no symptoms. Conclusions The SEDL gene escaping X chromosome in-activation is firstly identified from human body. This may explain that carrier females present no symptoms.
【Fund】: 河南省教育厅自然科学研究项目资助(2003320140)
【CateGory Index】: R726.8
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【Citations】
Chinese Journal Full-text Database 2 Hits
1 WANG Huai li, GAO Chao, LUO Qiang, SHENG Guang yao, ZHOU Jian hua, GAO Tie zheng, PENG Shao, LU Jun ping. Department of Pediatrics , The First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China.;Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing[J];Chinese Journal of Pediatrics;2003-04
2 GAO Chao 1, LUO Qiang 1, WANG Huai li 1, GAO Xiao qun 2, FAN Qing tang 3, WANG Hua 1, SHENG Guang yao 1, ZHOU Jian hua 1, GAO Tie zheng 1. ( 1Paediatric Department of the First Affiliated Hospital, 2Department of Anatomy, 3Henan Key Laboratory of Molecular Medicine, Zhengzhou University, Zhengzhou,Henan,450052 P.R.China.;Identification of a novel mutation IVS2-2A→C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda[J];Chinese Journal of Medical Genetics;2003-01
【Co-citations】
Chinese Journal Full-text Database 2 Hits
1 GAO Chao,WANG Huaili,LUO Qiang,et al The Children Hospital of Zhengzhou City,Zhengzhou 450053,China;Genetic Polymorphism of X-chromosome-specific Microsatellite DXS16 in Han Population[J];Journal of Medical Forum;2006-21
2 LU Jun-feng1, MA Hong-wei1, JIANG Jun1, NIU Guo-hui1, LIU Xiao-mei2. (1Department of Developmental Pediatrics, Genetic Laboratory,2Central Laboratory, The Second Clinical College, China Medical University, Shenyang, Liaoning, 110004 P.R.China. ) Corresponding author: MA Hong-wei;Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda[J];Chinese Journal of Medical Genetics;2004-04
【Co-references】
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1 Chang-Yun LIU1, Ying LU2, Yong-Qin WANG1, Hong-Ying LIU1, Jia-Fen JI1, Zhen-Rong LI1,Wei-Hua LI1, Lan-Xiu LI, Chuan-Li ZHENG11.Department of Pediatrics, Affiliated Hospital, Weifang Medical College; 2. Weifang People′s Hospital, Weifang, Shangdong 261042, China;Effect of the variation of exon 20 of leptin receptor gene on lipid metabolism in children with obesity[J];The Chinese Journal of Contemporary Pediatrics;2005-04
2 Zhang Zhixin,Yu Weimin,Wang Lin,Zhou Zhongshu,Shen Shu,Zhang Xuezhe.Department of Pediatrics,China_Japan Friendship Hospita,Beijing100029;Clinical manifestations and cerebral white matter changes in children with tetrahydrobiopterin deficiency before and after treatment[J];The Journal of clinical Pediatrics;2005-02
3 Wei Hong,Ying Yanqin,Liang Yan,Wang Guanghui,Luo Xiaoping.Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030;Establishment of GC-MS method for the determination of plasma very long fatty acid and clinical application[J];The Journal of clinical Pediatrics;2005-08
4 ZHANG Gui - ju , SHEN Ying, LIU Min (Beijing Children s Hospital Affiliated to Capital University of Medical Science,Beijing 100045,China);Application of Non- Concentrated Proteinuria Electrophroresis in Early Diagnosis of Type 1 Diabetic Nephropathy[J];Journal of Applied Clinical Pediatrics;2005-05
5 XU Xiao-hua,WANG Xiu - min, FU Jun - fen, ZHOU Xiao - jun (The First People's Hospital of Huzhou City,Huzhou 313000,China;Children's Hospital Affiliated to Zhejiang University, Hangzhou 310003,China);Value of Different Indexes in Evaluating Insulin Resistance in Obese Children[J];Journal of Applied Clinical Pediatrics;2005-06
6 CHENG Jing,LIU Li(Guangzhou Children′s Hospital, Guangzhou 510020,China);Analysis of 57 Children less than 4-Year-Old with Sexual Precocity[J];Journal of Applied Clinical Pediatrics;2005-09
7 LIU Qian-qi,CHEN Rong-hua,GUO Xi-rong,GUO Mei,FEI Li(Institute of Pediatrics,the Second Clinical College of Nanjing Medical University, Nanjing 210029,China);Effects of Recombinant Leptin on Expressions of OB-R and OB-Rb mRNA in Brains of Diet-Induced Obese Rats[J];Journal of Applied Clinical Pediatrics;2005-12
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9 SUN Wen-xi n, WANG Wei, WANG De-fen, Cui Yi-fen. Department of Pediatrics, Ruijin Hospit al, Shanghai Second Medical University, Shanghai 200025, China;Oral glucose tolerance and insulin release test in 52 cases of obese and overweight children[J];Chinese Journal of Pediatrics;2005-02
10 ZHANG Zhi-xin,YE Jun,QIU Wen-juan,HAN Lian-shu,GU Xue-fan. Department of Pediatric Endocrinology, Genetic and Metabolic Diseases, Xinhua Hospital, Shanghai Second Medical University, Shanghai Institute for Pediatric Research, Shanghai 200092, China;Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test[J];Chinese Journal of Pediatrics;2005-05
【Secondary References】
Chinese Journal Full-text Database 2 Hits
1 MO Shan,DENG Li-sha,LI Wei-yuan,XIE Xue-tian,ZHANG Qun(Department of Pediatrics,Foshan Hospital of TCM,Foshan 528000,Guangdong,China);Effect of Dispersing the Depressed Liver-energy and Nourishing Liver-yin Method on Ovary Cubage of Idiopathic True Precocious Puberty Girls[J];Journal of Liaoning University of Traditional Chinese Medicine;2007-04
2 LI Wei-yuan,DENG Li-sha,MO Shan,XIE Xue-tian,ZHANG Tian(Department of Pediatrics,Foshan Hospital of TCM,Foshan 528000,Guangdong,China);Effect of Auricular Point Press Therapy Combined with Nourishing YIN to Lower Pathogenic Fire Herb to the growth of True Precocious Puberty Girl[J];Chinese Archives of Traditional Chinese Medicine;2007-10
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