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  • 标题:Physical map of human Xq27-qter: localizing the region of the fragile X mutation
  • 本地全文:下载
  • 作者:A Poustka ; A Dietrich ; G Langenstein
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:1991
  • 卷号:88
  • 期号:19
  • 页码:8302-8306
  • DOI:10.1073/pnas.88.19.8302
  • 语种:English
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kilobases between 8 and 8.7 Mb proximal of the Xq telomere.
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