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Beijing Region (3pter-D3S3397) of th

時(shí)間:2023-05-01 01:49:21 生物醫(yī)學(xué)論文 我要投稿
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Beijing Region (3pter-D3S3397) of the Human Genome: Complete sequence and analysis

The goal of the Human Genome Project (HGP) is to determine a complete and high-quality sequence of the human genome. China, as one of the six member states, takes a region between 3pter and D3S3397 of the human chromosome 3 as its share of this historic project, referred as "Beijing Region". The complete sequence of this region comprises of 17.4 megabasepairs (Mb) with an average GC content of 42% and an average recombination rate of 2.14 cM/Mb. Within Beijing Region, 122 known and 20 novel genes are identified, as well as 42607 single nucleotide polymorphisms (SNPs). Comprehensive analyses also reveal: (i) gene density and GC-content of Beijing Region are in agreement with human cytogenetic maps, i.e. G-minus bands are GC-rich and of a high gene density, whereas G-plus bands are GC-poor and of a relatively low gene density; (ii) the average recombination rate within Beijing Region is relatively high compared with other regions of chromosome 3, with the highest recombination rate of 6.06 cM/Mb in the subtelomeric area; (iii) it is most likely that a large gene, associated with the mammary gland, may reside in the 1.1 Mb gene-poor area near the telomere; (iv) many disease-related genes are genetically mapped to Beijing Region, including those associated with cancers and metabolic syndromes. All make Beijing Region an important target for in-depth molecular investigations with a purpose of medical applications.

作 者: The Chinese Human Genome Sequencing Consortium   作者單位: Beijing Genomics Institute, Chinese Academy of Sciences, Beijing 101300, China /James D. Watson Institute of Genome Sciences, Zhejiang University, Hangzhou 310008, China;Chinese National Human Genome Center at Shanghai (CHGC), Shanghai 201203, China;Chinese National Human Genome Center, Beijing (CHGB), Beijing 100176, China  刊 名: 中國(guó)科學(xué)C輯(英文版)  SCI 英文刊名: SCIENCE IN CHINA (LIFE SCIENCES)  年,卷(期): 2005 48(4)  分類(lèi)號(hào): Q3  關(guān)鍵詞: Human Genome Project (HGP)   "Beijing Region"   complete sequence   genome landscape   sequence annotation  

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