Literature DB >> 2565879

Localization of the gene for classic Alport syndrome.

F A Flinter1, S Abbs, M Bobrow.   

Abstract

The inheritance of Alport syndrome has been controversial for 30 years because no clear diagnostic criteria were established to define a clinically homogeneous group of patients. In this study, 41 families with "classic" Alport syndrome were identified and studied. All the pedigrees are compatible with X-linked inheritance. A formal genetic study confirmed linkage to probe S21 (DXS17), with a maximum LOD score of 4.72 at a recombination frequency of 0.06.

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Year:  1989        PMID： 2565879     DOI： 10.1016/0888-7543(89)90339-x

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


  15 in total

1.  The molecular genetics of Alport syndrome: report of two workshops.

Authors:  F Flinter; M Bobrow
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Alport syndrome: a genetic study of 31 families.

Authors:  R M'Rad; M Sanak; G Deschenes; J Zhou; C Bonaiti-Pellie; L Holvoet-Vermaut; S Heuertz; M C Gubler; M Broyer; J P Grunfeld
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

3.  Alport syndrome caused by a 5' deletion within the COL4A5 gene.

Authors:  A Renieri; M Seri; J C Myers; T Pihlajaniemi; A Sessa; G Rizzoni; M De Marchi
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

4.  Mutation in the alpha 5(IV) collagen chain in juvenile-onset Alport syndrome without hearing loss or ocular lesions: detection by denaturing gradient gel electrophoresis of a PCR product.

Authors:  J Zhou; J M Hertz; K Tryggvason
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

Review 5.  Alport's syndrome.

Authors:  F Flinter
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

6.  Multipoint linkage analysis in X-linked Alport syndrome.

Authors:  J M Hertz; T A Kruse; A Thomsen; E S Spencer
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

7.  High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers.

Authors:  D F Barker; P R Fain; D E Goldgar; J N Dietz-Band; A E Turco; C E Kashtan; M C Gregory; K Tryggvason; M H Skolnick; C L Atkin
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

8.  Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome.

Authors:  A Renieri; M Seri; L Galli; P Cosci; E Imbasciati; L Massella; G Rizzoni; G Restagno; A O Carbonara; E Stramignoni
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

9.  Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.

Authors:  K E Morrison; M Mariyama; T L Yang-Feng; S T Reeders
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

10.  X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

Authors:  D Vetrie; F Flinter; M Bobrow; A Harris
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318
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