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

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

doi:https://doi.org/10.1159/000133484

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

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

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Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

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

Original language	English
Pages (from-to)	231-235
Journal	Cytogenetics and Cell Genetics
Volume	62
Issue number	4
DOIs	https://doi.org/10.1159/000133484
Publication status	Published - 1993

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https://doi.org/10.1159/000133484

Cite this

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. (1993). Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning. Cytogenetics and Cell Genetics, 62(4), 231-235. https://doi.org/10.1159/000133484

@article{9a691e445ce14767accb9d61ffea0568,

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

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",

author = "Bergen, {A. A.} and Wapenaar, {M. C.} and Schuurman, {E. J.} and Diergaarde, {P. J.} and H. Lerach and Monaco, {A. P.} and E. Bakker and Bleeker-Wagemakers, {E. M.} and {van Ommen}, {G. J.}",

year = "1993",

doi = "https://doi.org/10.1159/000133484",

language = "English",

volume = "62",

pages = "231--235",

journal = "Cytogenetics and Cell Genetics",

issn = "0301-0171",

publisher = "S. Karger AG",

number = "4",

}

Bergen, AA, Wapenaar, MC, Schuurman, EJ, Diergaarde, PJ, Lerach, H, Monaco, AP, Bakker, E, Bleeker-Wagemakers, EM & van Ommen, GJ 1993, 'Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning', Cytogenetics and Cell Genetics, vol. 62, no. 4, pp. 231-235. https://doi.org/10.1159/000133484

TY - JOUR

T1 - Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

AU - Bergen, A. A.

AU - Wapenaar, M. C.

AU - Schuurman, E. J.

AU - Diergaarde, P. J.

AU - Lerach, H.

AU - Monaco, A. P.

AU - Bakker, E.

AU - Bleeker-Wagemakers, E. M.

AU - van Ommen, G. J.

PY - 1993

Y1 - 1993

N2 - 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

AB - 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

U2 - https://doi.org/10.1159/000133484

DO - https://doi.org/10.1159/000133484

M3 - Article

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SN - 0301-0171

VL - 62

SP - 231

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JO - Cytogenetics and Cell Genetics

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