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Bivariate whole-genome linkage scan for bone geometry and total body fat mass

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Journal of Genetics and Genomics 2009年第2期36卷 89-97页

作者： Shufeng Lei Feiyan Deng Peng Xiao Kai Zhong Hongyi Deng robert r. recker Hongwen Deng Laboratory of Molecular and Statistical Genetics College of Life Sciences Hunan Normal University Changsha 410081 China Osteoporosis research Center and Department of Biomedical Sciences Creighton University Medical Center Omaha NE 68131 USA Departments of Orthopedic Surgery and Basic Medical Sciences University of Missouri-Kansas City Kansas City Missouri 64108-2792 USA

To quantify the genetic correlations between total body fat mass （TBFM） and femoral neck geometric parameters （FNGPs） and, if pos- sible, to detect the specific genomic regions shared by them, bivariate genetic analysis and bivariate whole-genome linkage scan were carried out in a large Caucasian population. All the phenotypes studied were significantly controlled by genetic factors （P 〈 0.001） with the heritabilities ranging from 0.45 to 0.68. Significantly genetic correlations were found between TBFM and CSA （cross-section area）, W （sub-periosteal diameter）, Z （section modulus） and CT （cortical thickness） except between TBFM and Br （buckling ratio）. The peak bivariate LOD scores were 3.23 （20q12）, 2.47 （20p11）, 3.19 （6q27）, 1.68 （20p12）, and 2.47 （7q11） for the five pairs of TBFM and Br, CSA, CT, W, and Z in the entire sample, respectively. Gender-specific bivariate linkage evidences were also found for the five pairs. 6p25 had complete pleiotropic effects on the variations of TBFM ＆ Z in the female sub-population, and 6q27 and 17q11 had coincident link- ages for TBFM ＆ CSA and TBFM ＆ Z in the entire population. We identified moderate genetic correlations and several shared genomic regions between TBFM and FNGPs in a large Caucasian population.

关键词： bivariate whole-genome linkage scan total body fat mass bone geometry genetic correlation

Fine mapping of susceptibility genes by Lewontin's linkage disequilibrium measure with application to Alzheimer's disease

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Chinese Medical Journal 2002年第8期115卷 113-120页

作者： Gordon Gong Gleb Haynatzki robert r.recker John Mordeson Shih Chuan Cheng Nelson Fong Creighton University Osteoporosis research Center 601 North 30th Street Suite 6730 Omaha NE 68131 USA China 410081 Department of Mathematics and Computer Science Creighton University 2500 California Plaza Omaha NE 68178

Objectives To formulate an equation for fine mapping of disease loci under complex conditions and determine the marker-disease distance in a specific case using this equation. Methods Lewontin’s linkage disequilibrium (LD) measure D’ was used to formulate an equation for mapping disease genes in the presence of phenocopies, locus heterogeneity, gene-gene and gene-environment interactions, incomplete penetrance, uncertain liability and threshold, incomplete initial LD, natural selection, recurrent mutation, high disease allele frequency and unknown mode of inheritance. This equation was then used to determine the distance between a marker (ε4 within the apolipoprotein E gene, APOE) and Alzheimer’s disease (AD) loci using published *** An equation was formulated for mapping disease genes under the above conditions. If these conditions are present but ignored, then recombination fraction θ between marker and disease loci will be either overestimated or estimated with little bias. Therefore, an upper limit of θ can be obtained. AD has been found to be associated with the marker allele ε4 in Africans, Asians, and Caucasians. This suggests that the AD-ε4 allelic LD predates the divergence of peoples occurring 100?000 years ago. With the age of AD-ε4 allelic LD so estimated, the maximal distance was calculated to be 23.2 kb (mean 5.8 kb). Conclusions (1) A method is developed for LD mapping of susceptibility genes. (2) A mutation within the APOE gene itself, among others, is responsible for the susceptibility to AD, which is supported by recent evidence from studies using transgenic mice.

关键词： linkage disequilibrium mapping complex trait phenocopies penetrance mutation selection susceptibility genes

Contribution of genotype and ethnicity to bone mineral density variation in Caucasians and Chinese: a test for five candidate genes for bone mass

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Chinese Medical Journal 2005年第15期118卷 1235-1244页

作者： Volodymyr Dvornyk LIU Peng-yuan LONG Ji-rong ZHANG Yuan-yuan LEI Shu-feng robert r recker DENG Hong-wen Laboratory of Molecular and Statistical Genetics College of Life Sciences Hunan Normal University Changsha 410081 China Osteoporosis research Center and Department of Biomedical Sciences Creighton University Medical centre Omaha NE 68131 USA

Background Ethnicity is shown to be one of important factors affacting bone mineral density （BMD）. The present study was performed to compare the association of six markers for five candidate genes with BMD variation in two populations of different ethnicity, Caucasian and Chinese, and the contribution of genotype and ethnicity to this variation in the populations. Methods The studied restriction fragment length polymorphisms were BsaH Ⅰ of the calcium-sensing receptor gene, Sac Ⅰ of the α2HS-glycoprotein （AHSG） gene, Pvu Ⅱ and Xba Ⅰ of the oestrogen receptor α gene, Apa Ⅰ of the vitamin D receptor （VDr） gene and BstB Ⅰ of the parathyroid hormone gene. The association of these markers with BMD was analysed by one-way and two-way ANOVA with adjustment for covariates. results Two polymorphisms, AHSG-Sac Ⅰ and VDr-Apa Ⅰ , showed no association with BMD, while the others were associated with BMD variation at some skeletal sites in either males or females. The polymorphisms indicated clear distinctions between the associations depending on ethnicity, gender and skeletal site. Similar patterns were observed in their contribution to the total population BMD variation. Ethnicity appears to have a larger effect on the total population BMD variation in females than in males. It may account, on the average, for about 2% total population BMD variation at the spine of females and about 1% at the hip of males and females. Conclusion The results of the present study suggest that significant interethnic differentiation at some loci may contribute to the significant interethnic difference in BMD. However, this contribution apparently is not large.

关键词： bone mineral density genotype ethnicity association osteoporosis

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胃酸缺乏患者进食同时服用碳酸钙的钙吸收

中国临床营养杂志 2006年第4期14卷 274-275页

作者： robert r recker 周琦

钙以离子形式通过肠壁细胞吸收.食物或钙补充剂中的大部分钙以溶解度较低的盐的形式存在,而这些盐的溶解度取决于环境pH值,故胃酸分泌对于正常的钙吸收是必需的.然而,有关胃酸缺乏患者从不溶性钙盐中吸收钙的效率的资料很少,故很有必要... 详细信息

钙以离子形式通过肠壁细胞吸收.食物或钙补充剂中的大部分钙以溶解度较低的盐的形式存在,而这些盐的溶解度取决于环境pH值,故胃酸分泌对于正常的钙吸收是必需的.然而,有关胃酸缺乏患者从不溶性钙盐中吸收钙的效率的资料很少,故很有必要对此问题进行探究.治疗钙缺乏的最常见的钙补充剂是碳酸钙,本研究旨在检验胃酸缺乏患者在早餐的同时服用碳酸钙时,钙是否可以被正常、充分地吸收。

关键词：胃酸缺乏钙吸收同时服用碳酸钙患者进食钙补充剂细胞吸收胃酸分泌溶解度

TNFr2基因的CA重复多态性在两个独立的白人群体中与肥胖表型的连锁和关联(英文)

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Acta Genetica Sinica 2006年第9期33卷 775-781页

作者：黄青阳 SHEN Hui DENG Hong-Yi Theresa Conway Leo Elze K. Michael Davies robert r. recker 邓红文华中师范大学生命科学学院武汉430079 湖南师范大学生命科学学院长沙410081 西安交通大学生命科学与生物技术学院西安710049 美国克瑞屯大学医学中心内布拉斯加州68131

我们先前通过全基因组扫描发现1p36与体重指数显提示性连锁(LOD=2.09)。肿瘤坏死因子受体2(TNFr2)定位于1p36,是肥胖的一个极好的图位和功能侯选基因。本研究采用数量传递连锁不平衡检验在两个大的独立的白人样本中进行了TNFr2基因与肥... 详细信息

我们先前通过全基因组扫描发现1p36与体重指数显提示性连锁(LOD=2.09)。肿瘤坏死因子受体2(TNFr2)定位于1p36,是肥胖的一个极好的图位和功能侯选基因。本研究采用数量传递连锁不平衡检验在两个大的独立的白人样本中进行了TNFr2基因与肥胖表型的连锁与关联检验。第一组受试者由来自79个多代家系的1836个个体组成;第二组受试者由来自157个核心家庭的636个个体组成。所检测的肥胖表型包括体重指数、脂肪量和脂肪量百分数。在多代家系中我们发现TNFr2基因变异与BMI显著连锁(P=0.0056)。结果表明,TNFr2基因是影响白人BMI变异的一个数量性状位点。

关键词： TNFr2基因肥胖传递不平衡检验连锁关联

骨质疏松症的遗传学研究及其基因定位的方法和现状

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中国骨肿瘤骨病 2002年第6期1卷 364-368页

作者：邓红文 robertr.recker

　　(上接第5期第282页)　　三、寻找决定骨质密度基因的分子遗传学研究　　1.候选基因的关联分析:对导致骨质疏松风险的基因鉴定,开始于维生素D受体基因(VDr)与脊柱和髋骨骨质密度相关联的报道[79].从那以后,大量关于候选基因的分子标... 详细信息

　　(上接第5期第282页)　　三、寻找决定骨质密度基因的分子遗传学研究　　1.候选基因的关联分析:对导致骨质疏松风险的基因鉴定,开始于维生素D受体基因(VDr)与脊柱和髋骨骨质密度相关联的报道[79].从那以后,大量关于候选基因的分子标记与骨质密度变异相关联的论文不断出现.不同学科(例如分子生物学、细胞生物学)对骨学的几十年研究,揭示越来越多的基因对骨骼生物学有重要作用[80].同时,一些与人类骨骼直接相关的重要候选基因的功能,以及它们和骨质密度之间的关联性研究结果已有全面的总结[18-23],在这不作类似介绍.……

关键词：骨质密度 BMD 候选基因关联分析全身骨骼遗传学研究骨密度股骨颈脊椎骨骨质疏松症骨质疏松

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人类双核苷酸微卫星位点的突变程式

人类双核苷酸微卫星位点的突变程式

ANKrD7 and CYTL1 are novel risk genes for alcohol drinking behavior

湖北省遗传学会第七次代表大会暨学术讨论会

作者：黄青阳徐富华 robert r.recker 邓红文华中师范大学生命科学学院 Osteoporosis research Center Creighton University USA

微卫星因其具有染色体位点的特异性和高的变异性而被广泛用于遗传作图、连锁分析、群体和进化遗传学研究。然而我们对微卫星的进化动力学仍知之甚少。微卫星变异受DNA滑动、误配修复的效率、选择、长度限制和其它因素的影响。影响微卫...

微卫星因其具有染色体位点的特异性和高的变异性而被广泛用于遗传作图、连锁分析、群体和进化遗传学研究。然而我们对微卫星的进化动力学仍知之甚少。微卫星变异受DNA滑动、误配修复的效率、选择、长度限制和其它因素的影响。影响微卫星突变率的因素包括重复数、重复类型、侧翼序列、重组率、性别和年龄。研究微卫星的突变动力学是重要的。首先,微卫星突变与许多人类遗传病有关,如脆性X染色体综合症和亨廷顿氏病等;第二,群体分歧和种间系统遗传关系重建的分析要求特定的距离测量,已经提出了许多基于微卫星资料的距离测量,这些距离测量都假定微卫星突变遵循一步突变模型(SMM),这个假定对于距离测量的精度是重要的。

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Chinese Medical Journal 2012年第6期125卷 1127-1134页

作者： CHEN Xiang-ding XIONG Dong-hai YANG Tie-lin PEI Yu-fang GUO Yan-fang LI Jian YANG Fang PAN Feng TAN Li-jun YAN Han LIU Xiao-gang LEI Shu-feng LI Xi NING Ling-ling ZHU Xue-zhen Shawn Levy Henry r. Kranzler Lindsay A. Farrer Joel Gelernter robert r. recker DENG Hong-wen Laboratory of Molecular and Statistical Genetics Key Laboratory of Protein Chemistry and Developmental Biology of Ministry of Education College of Life Sciences Hunan Institute of Biology Hunan Normal University Changsha Hunan 410081 China Departments of Orthopedic Surgery and Basic Medical Sciences University of Missouri-Kansas City Kansas City MO 64108 USA Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics School of Life Science and Technology Xi＇an Jiaotong University Xi＇an Shannxi 710049 China Department of Biomedical Informatics Vanderbilt University Medical Center Nashville TN 37232 USA University of Connecticut Health Center Farmington CT 06030 USA Boston University School of Medicine Boston MA 02118 USA Department of Psychiatry Yale University School of Medicine West Haven CT 06516 USA Osteoporosis research Center Creighton University Omaha NE 68131 USA Systematic Biomedicine research Center University of Shanghai for Science and Technology Shanghai 200093 China

Background Alcohol dependence （AD） is a complex disorder characterized by impaired control over drinking. It is determined by both genetic and environmental factors. The recent approach of genome-wide association study （GWAS） is a powerful tool for identifying complex disease-associated susceptibility alleles, however, a few GWASs have been conducted for AD, and their results are largely inconsistent. The present study aimed to screen the loci associated with alcohol-related phenotypes using GWAS technology. Methods A genome-wide association study with the behavior of regular alcohol drinking and alcohol consumption was performed to identify susceptibility genes associated with AD, using the Affymetrix 500K SNP array in an initial sample consisting of 904 unrelated Caucasian subjects. Then, the initial results in GWAS were replicated in three independent samples： 1972 Caucasians in 593 nuclear families, 761 unrelated Caucasian subjects, and 2955 unrelated Chinese Hans. results Several genes were associated with the alcohol-related phenotypes at the genome-wide significance level, with the ankyrin repeat domain 7 gene （ANKrDT） showing the strongest statistical evidence for regular alcohol drinking and suggestive statistical evidence for alcohol consumption. In addition, certain haplotypes within the ANKrD7 and cytokine-likel （CYTL 1） genes were significantly associated with regular drinking behavior, such as one ANKrD7 block composed of the SNPs rs6466686-rs4295599-rs12531066 （P = 6.51×10^-8）. The association of alcohol consumption was successfully replicated with rs4295599 in ANKrD7 gene in independent Caucasian nuclear families and independent unrelated Chinese Hans, and with rs16836497 in CYTL1 gene in independent unrelated Caucasians. Meta-analyses based on both the GWAS and replication samples further supported the observed significant associations between the ANKrDTor CYTL1 gene and alcohol consumption. Conclusion The evidence suggests that ANKrD7 and CYTL 1 ge

关键词： alcohol dependence ANKrD7 CYTL1 genome-wide association study

Comprehensive analysis of the association of EGFr,CALM3 and SMArCD1 gene polymorphisms with BMD in white women

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Comprehensive analysis of the association of EGFR,CALM3 and ...