Literature DB >> 8500256

Multipoint linkage analysis in X-linked juvenile retinoschisis.

A A Bergen1, M J van Schooneveld, U Orth, E M Bleeker-Wagemakers, A Gal.   

Abstract

Thirteen families with X-linked juvenile retinoschisis (XLRS) were studied in order to evaluate the linkage relationship between the XLRS locus (RS) and seven X-chromosomal DNA markers. Linkage was found between RS and DXS9 (theta max = 0.11, Zmax = 4.17), DXS16 (theta max = 0.06, Zmax = 7.72), DXS41 (theta max = 0.06, Zmax = 8.13) and DXS43 (theta max = 0.03, Zmax = 6.11). Recombinants were found between RS and all loci studied. Multipoint linkage analysis and recombination analysis significantly favour the order of Xpter-(DXS9, (DXS16-DXS43))-RS-DXS41-Xcen.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8500256     DOI： 10.1111/j.1399-0004.1993.tb04433.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  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

Review 2.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

3.  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

4.  Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.

Authors:  Kirk Stephenson; Adrian Dockery; Niamh Wynne; Matthew Carrigan; Paul Kenna; G Jane Farrar; David Keegan
Journal:  BMC Med Genet       Date:  2018-11-12       Impact factor: 2.103
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.