将亨特综合征基因定位于X染色体长臂远端区域的进一步证据。
Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm.
作者信息
Roberts S H, Upadhyaya M, Sarfarazi M, Harper P S
机构信息
Institute of Medical Genetics, University Hospital of Wales, Cardiff.
出版信息
J Med Genet. 1989 May;26(5):309-13. doi: 10.1136/jmg.26.5.309.
Cytogenetic re-evaluation of a fibroblast cell line from a female Hunter's syndrome case with a balanced X;autosome translocation, which had previously been reported to have a breakpoint in Xq26 to Xq27, showed the breakpoint to be either between Xq27 and Xq28 or within Xq28. The normal X chromosome was preferentially inactivated, supporting the view that the translocation had disrupted the Hunter gene. The new localisation is now in full agreement with our previous linkage work and other published data. Results of further linkage studies using probes defining the loci DXS86, DXS144, DXS100, DXS102, DXS105, F8C, and DXS134 are also consistent with our original conclusion that the Hunter locus lies within the distal region of the X chromosome long arm.
对一名患有平衡型X;常染色体易位的女性亨特综合征病例的成纤维细胞系进行细胞遗传学重新评估，该病例先前报道在Xq26至Xq27有一个断点，结果显示断点位于Xq27和Xq28之间或Xq28内。正常的X染色体优先失活，支持了易位破坏了亨特基因的观点。新的定位现在与我们之前的连锁研究和其他已发表的数据完全一致。使用定义DXS86、DXS144、DXS100、DXS102、DXS105、F8C和DXS134位点的探针进行的进一步连锁研究结果也与我们最初的结论一致，即亨特基因座位于X染色体长臂的远端区域。
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