Literature DB >> 2163974

DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis.

J A Towbin1, J S Chamberlain, D R Wu, D A Pillers, W K Seltzer, E R McCabe.   

Abstract

Complex glycerol kinase deficiency (CGKD) is a contiguous gene syndrome consisting of glycerol kinase deficiency together with Duchenne muscular dystrophy (DMD), congenital adrenal hypoplasia, and/or Aland Island eye disease. Deletion mapping of genomic DNA from patients with CGKD was carried out and allowed definitive ordering of loci DXS28 (C7), DXS68 (L1-4), and DXS67 (B24). Most reports have placed DXS68 centromeric to DXS28 and DXS67 on the basis of the initial mapping of the Iowa patient 3, but others have presented evidence consistent with the placement of DXS28 telomeric to DXS68 and DXS67. Through the use of DNA from CGKD patients with a variety of genomic deletions, this controversy is resolved and the order Xcen...DMD-DXS28-DXS68-DXS67...pter is definitively demonstrated.

Entities:  

Mesh:

Substances:

Year:  1990        PMID: 2163974     DOI: 10.1016/0888-7543(90)90181-s

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  2 in total

1.  Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

Authors:  D Récan; P Chafey; F Leturcq; J P Hugnot; N Vincent; F Tomé; H Collin; D Simon; P Czernichow; L V Nicholson
Journal:  J Clin Invest       Date:  1992-02       Impact factor: 14.808

2.  Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.

Authors:  E R McCabe; J A Towbin; G van den Engh; B J Trask
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.