Literature DB >> 8440142

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

A A Bergen1, M C Wapenaar, E J Schuurman, P J Diergaarde, H Lerach, A P Monaco, E Bakker, E M Bleeker-Wagemakers, G J van Ommen.   

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.

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Year:  1993        PMID: 8440142     DOI: 10.1159/000133484

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  6 in total

1.  Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.

Authors:  A A Bergen; A J Pinckers
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

2.  Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.

Authors:  A A Bergen; J B ten Brink; F Riemslag; E J Schuurman; F Meire; N Tijmes; P T de Jong
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

Authors:  S van Soest; J Swart; N Tijmes; L A Sandkuijl; J Rommers; A A Bergen
Journal:  Genome Res       Date:  1997-08       Impact factor: 9.043

4.  Refinement of the chromosomal position of the X linked juvenile retinoschisis gene.

Authors:  A A Bergen; J B ten Brink; L M Bleeker-Wagemakers; M J van Schooneveld
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

5.  Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.

Authors:  A A Bergen; P Kestelyn; M Leys; F Meire
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

6.  Efficient DNA carrier detection in X linked juvenile retinoschisis.

Authors:  A A Bergen; J B ten Brink; M J van Schooneveld
Journal:  Br J Ophthalmol       Date:  1995-07       Impact factor: 4.638

  6 in total

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