利用差异Alu PCR指纹克隆分离的新型DNA探针检测新的亚微观诺里病缺失区间。

Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.

作者信息

Bergen A A, Wapenaar M C, Schuurman E J, Diergaarde P J, Lerach H, Monaco A P, Bakker E, Bleeker-Wagemakers E M, van Ommen G J

机构信息

The Netherlands Ophthalmic Research Institute, Amsterdam.

出版信息

Cytogenet Cell Genet. 1993;62(4):231-5. doi: 10.1159/000133484.

DOI:10.1159/000133484

PMID:8440142

Abstract

Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic map of the proximal short arm of the X chromosome, we propose the physical order Xcen-DXS14-DXS255-(DXS426, TIMP)-(DXS742-([MAOB-MAOA-DXS7], NDP)-DXS77-DXS228)-DXS209-DXS148-DXS196-++ +Xpter. The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence-tagged sites. Finally, DXS742, DSX7, DXS77, and MAOA were integrated into a physical map spanning the Norrie disease locus.

摘要

采用差异Alu PCR指纹克隆技术从人类X染色体的Xp11.4→p11.21区域分离出一个DNA探针。这个新序列cpXr318（DXS742）在诺里病基因座（NDP）检测到一个新的亚显微缺失区间。将我们的数据与X染色体近端短臂的一致性遗传图谱相结合，我们提出了物理顺序：Xcen - DXS14 - DXS255 -（DXS426，TIMP）-（DXS742 -（[MAOB - MAOA - DXS7]，NDP）- DXS77 - DXS228）- DXS209 - DXS148 - DXS196 - +++Xpter。cpXr318探针和一个对应于DXS7基因座的黏粒亚克隆被转化为序列标签位点。最后，DXS742、DSX7、DXS77和MAOA被整合到一个跨越诺里病基因座的物理图谱中。