Literature DB >> 2071141

Aland eye disease: linkage data.

M Schwartz1, T Rosenberg.   

Abstract

A large Danish family with Aland Island eye disease (AIED) was studied by linkage analysis using 16 polymorphic DNA markers covering the whole X chromosome. Positive lod scores were found for marker loci at the proximal part of the short arm of the X chromosome, DXS255 and TIMP (Zmax = 3.93 and 3.18 at theta = 0.0), suggesting an assignment of the locus for AIED to this part of the X chromosome. Recombination was observed with the locus DXS7 as well as with other loci distal to DXS7. These results are not in agreement with the deletion presented previously by D-A. M. Pillers et al. (1990, Am. J. Med. Genet. 36: 23-28), which mapped AIED to Xp21.

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Year:  1991        PMID： 2071141     DOI： 10.1016/0888-7543(91)90315-6

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


  7 in total

1.  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

2.  Aland island eye disease: clinical and electrophysiological studies of a Welsh family.

Authors:  N R Hawksworth; S Headland; P Good; N S Thomas; A Clarke
Journal:  Br J Ophthalmol       Date:  1995-05       Impact factor: 4.638

3.  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

4.  Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Authors:  K M Boycott; W G Pearce; M A Musarella; R G Weleber; T A Maybaum; D G Birch; Y Miyake; R S Young; N T Bech-Hansen
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

5.  Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.

Authors:  H Jensen; M Warburg; O Sjö; M Schwartz
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

6.  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

7.  Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

Authors:  I A Glass; P Good; M P Coleman; P Fullwood; M G Giles; S Lindsay; A H Nemeth; K E Davies; H A Willshaw; A Fielder
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318
  7 in total

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