Poustka A, Dietrich A, Langenstein G, Toniolo D, Warren S T, Lehrach H
Deutsches Krebsforschungszentrum, Institut für Virusforschung, Heidelberg, Federal Republic of Germany.
Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8302-6. doi: 10.1073/pnas.88.19.8302.
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.
我们描述了人类X染色体长臂末端的物理图谱，该区域涵盖从Xq27.2到q端粒，包括染色体带Xq28。该区域特别令人感兴趣，因为它包含与遗传疾病相关的基因密度最高。该图谱总共覆盖了12兆碱基（Mb）的DNA，从端粒延伸到脆性X突变最可能位置之外3兆碱基处，脆性X突变由体细胞杂种中的一组易位断点定义。该图谱确定了整个Xq28区域内基因座的顺序和位置，并将标记脆性X区域的细胞系断点定位到Xq端粒近端8至8.7兆碱基之间300 - 700千碱基的区间内。
