目的 为了分离成人型多囊肾病致病基因PKD1区近侧端新的探针。方法 采用定向跳跃克隆PCR技术分离了一个DNA片段，通过反向PCR、缺失杂交定位，限制性内切酶谱分析以及DNA序列分析，并与PKD1区物理图谱及最新的DNA数据库比较。结果 证实该克隆片段是一个新的DNA序列，位于PKD1区NK92.6SH1.0近侧的Mlu Ⅰ位点处，距克隆起始位点AJ1约40kb。结论 由于该位点位于PKD1可能存在的另一候选基因的潜在区域内，故可作为进一步筛选PKD1新候选基因的探针使用。

Objective To confirm the possibility that another candidate gene may exist likely mapped near the locus of NK92.6 SH1.0 in PKD1 region. Methods Using oriented jumping cloning PCR, a DNA fragment expected to be around the Mlu Ⅰ site, which is about 40kb distal from the jumping point (AJ1 locus) and 10kb proximal to NK 92.6 SH1.0 locus, has been cloned. Results Its genomic location expected was supported not only by the evidence from inverse PCR, but also by those from experiments of deletion hybridization and restriction mapping. Conclusion This cloned fragment could be used as a probe in selection of the new PKD1 candidate gene or other neighbouring genes in PKD1 region.

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