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子宫内膜异位症遗传易感性的研究进展 被引量:3
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作者 马文擎 汪雯雯 王世宣 《现代妇产科进展》 CSCD 2012年第8期651-653,共3页
子宫内膜异位症是一种激素依赖性的女性常见疾病。虽然其发病机制尚未完全清楚,但越来越多的证据表明,子宫内膜异位症是一种在多易感位点的遗传背景和环境因素作用下或环境与基因相互作用下发生的复杂性疾病。随着科学研究的逐步深入和... 子宫内膜异位症是一种激素依赖性的女性常见疾病。虽然其发病机制尚未完全清楚,但越来越多的证据表明,子宫内膜异位症是一种在多易感位点的遗传背景和环境因素作用下或环境与基因相互作用下发生的复杂性疾病。随着科学研究的逐步深入和实验技术的不断创新,子宫内膜异位症遗传学方面的研究日新月异。本文主要从子宫内膜异位症遗传倾向的流行病学调查研究、候选基因研究、连锁分析及全基因组关联分析等方面进行综述和讨论,分析各种方法的优劣,从而为子宫内膜异位症遗传学的研究提供借鉴,并为发掘新的检测手段、治疗方法以及预防疾病的发生提供理论基础。 展开更多
关键词 子宫内膜异位症 遗传易感性 候选基因 连锁分析 全基因组研究
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Whole genome analyses reveal significant convergence in obsessive-compulsive disorder between humans and dogs 被引量:1
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作者 Xue Cao Wei-Peng Liu +8 位作者 Lu-Guang Cheng Hui-Juan Li Hong Wu Yan-Hu Liu Chao Chen Xiao Xiao Ming Li Guo-Dong Wang Ya-Ping Zhang 《Science Bulletin》 SCIE EI CSCD 2021年第2期187-196,M0004,共11页
Obsessive-compulsive disorder(OCD)represents a heterogeneous collection of diseases with diverse levels of phenotypic,genetic,and etiologic variability,making it difficult to identify the underlying genetic and biolog... Obsessive-compulsive disorder(OCD)represents a heterogeneous collection of diseases with diverse levels of phenotypic,genetic,and etiologic variability,making it difficult to identify the underlying genetic and biological mechanisms in humans.Domestic dogs exhibit several OCD-like behaviors.Using continuous circling as a representative phenotype for OCD,we screened two independent dog breeds,the Belgian Malinois and Kunming Dog and subsequently sequenced ten circling dogs and ten unaffected dogs for each breed.Using population differentiation analyses,we identified 11 candidate genes in the extreme tail of the differentiated regions between cases and controls.These genes overlap significantly with genes identified in a genome wide association study(GWAS)of human OCD,indicating strong convergence between humans and dogs.Through gene expressional analysis and functional exploration,we found that two candidate OCD risk genes,PPP2R2B and ADAMTSL3,affected the density and morphology of dendritic spines.Therefore,changes in dendritic spine may underlie some common biological and physiological pathways shared between humans and dogs.Our study revealed an unprecedented level of convergence in OCD shared between humans and dogs,and highlighted the importance of using domestic dogs as a model species for many human diseases including OCD. 展开更多
关键词 Obsessive-compulsive disorder Circling behavior Whole genome sequencing Genetic convergence Domestic dogs
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Studying the genetic basis of speciation in high gene flow marine invertebrates 被引量:1
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作者 Grant H. POGSON 《Current Zoology》 SCIE CAS CSCD 2016年第6期643-653,共11页
A growing number of genes responsible for reproductive incompatibilities between species (barrier loci) exhibit the signals of positive selection. However, the possibility that genes experiencing positive selection ... A growing number of genes responsible for reproductive incompatibilities between species (barrier loci) exhibit the signals of positive selection. However, the possibility that genes experiencing positive selection diverge early in speciation and commonly cause reproductive incompatibilities has not been systematically investigated on a genome-wide scale. Here, I outline a research program for studying the genetic basis of speciation in broadcast spawning marine invertebrates that uses a priori genome-wide information on a large, unbiased sample of genes tested for positive selection. A targeted sequence capture approach is proposed that scores single-nucleotide polymorphisms (SNPs) in widely separated species populations at an early stage of allopatric divergence. The targeted capture of both coding and non-coding sequences enables SNPs to be characterized at known locations across the genome and at genes with known selective or neutral histories. The neutral coding and non-coding SNPs provide robust background distributions for identifying Fsm-outliers within genes that can, in principle, identify specific mutations experiencing diversifying selection. If natural hybridization occurs between species, the neutral coding and noncoding SNPs can provide a neutral admixture model for genomic clines analyses aimed at finding genes exhibiting strong blocks to introgression. Strongylocentrotid sea urchins are used as a model system to outline the approach but it can be used for any group that has a complete reference genome available. 展开更多
关键词 barrier loci Bobzhansky-Muller incompatibilities FsToutliers genome scan INTROGRESSION positive selection sequence capture speciation.
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Genomes and evolutionary genomics of animals
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作者 Luting SONG Wen WANG 《Current Zoology》 SCIE CAS CSCD 2013年第1期87-98,共12页
Alongside recent advances and booming applications of DNA sequencing technologies, a great number of complete genome sequences for animal species are available to researchers. Hundreds of animals have been involved in... Alongside recent advances and booming applications of DNA sequencing technologies, a great number of complete genome sequences for animal species are available to researchers. Hundreds of animals have been involved in whole genome se- quencing, and at least 87 non-human animal species' complete or draft genome sequences have been published since 1998. Based on these technological advances and the subsequent accumulation of large quantity of genomic data, evolutionary genomics has become one of the most rapidly advancing disciplines in biology. Scientists now can perform a number of comparative and evolu- tionary genomic studies for animals, to identify conserved genes or other functional elements among species, genomic elements that confer animals their own specific characteristics and new phenotypes for adaptation. This review deals with the current ge- nomic and evolutionary research on non-human animals, and displays a comprehensive landscape of genomes and the evolution- ary genomics of non-human animals. It is very helpful to a better understanding of the biology and evolution of the myriad forms within the animal kingdom [Current Zoology 59 (1): 87-98, 2013]. 展开更多
关键词 ANIMALS GENOME Evolutionary genomics
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