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

Authors :
Bergen, AA
Wapenaar, MC
Schuurman, EJ
Diergaarde, PJ
Lerach, H
Monaco, AP
Bakker, E
Bleeker-Wagemakers, EM
van Ommen, GJ
Other departments
Source :
Cytogenetics and cell genetics, 62(4), 231-235. S. Karger AG
Publication Year :
2016

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.

Details

Language :
English
ISSN :
03010171
Database :
OpenAIRE
Journal :
Cytogenetics and cell genetics, 62(4), 231-235. S. Karger AG
Accession number :
edsair.dedup.wf.001..a00a3f7c0933a3ff73178d822841dd9e