跨越脆性X位点的酵母人工染色体连续克隆系确定了脆性区域。
A YAC contig across the fragile X site defines the region of fragility.
作者信息
Hirst M C, Rack K, Nakahori Y, Roche A, Bell M V, Flynn G, Christadoulou Z, MacKinnon R N, Francis M, Littler A J
机构信息
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
出版信息
Nucleic Acids Res. 1991 Jun 25;19(12):3283-8. doi: 10.1093/nar/19.12.3283.
The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.
脆性X综合征是智力迟钝的常见病因，与Xq27.3（FRAXA）处的一个脆性位点相关。最近，已有证据表明甲基化和基因组印记在该疾病的表达中起作用。我们通过对该区域进行长距离限制性图谱分析，在患者中确定了一个甲基化位点。在本文中，我们展示了该区域的一个酵母人工染色体（YAC）重叠群，定位了发生甲基化的CpG序列，并通过原位杂交表明脆性位点位于该区域内。
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