Literature DB >> 2904407

Linkage studies in X-linked Alport's syndrome.

S Szpiro-Tapia1, G Bobrie, M Guilloud-Bataille, S Heuertz, C Julier, J Frézal, J P Grünfeld, M C Hors-Cayla.   

Abstract

Four kindreds segregating for Alport's syndrome (ASLN) compatible with a X-linked inheritance were studied for linkage with polymorphic markers of the human X chromosome. No recombinant was observed between the ASLN locus and the DXS101 and DXS94 loci, the maximum lod scores were z = 3.93 and 3.50 respectively. Linkage data between the ASLN locus and the other genetic markers used in the present study are in keeping with the assignment of the mutation to the proximal Xq arm.

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Year:  1988        PMID： 2904407     DOI： 10.1007/BF00283736

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

Authors:  P N Goodfellow; K E Davies; H H Ropers
Journal:  Cytogenet Cell Genet       Date:  1985

2.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

Review 3.  Investigation of genetic linkage in human families.

Authors:  R White; J M Lalouel
Journal:  Adv Hum Genet       Date:  1987

4.  X-linked inheritance of Alport syndrome: family P revisited.

Authors:  S J Hasstedt; C L Atkin
Journal:  Am J Hum Genet       Date:  1983-11       Impact factor: 11.025

5.  A strategy to reveal high-frequency RFLPs along the human X chromosome.

Authors:  J Aldridge; L Kunkel; G Bruns; U Tantravahi; M Lalande; T Brewster; E Moreau; M Wilson; W Bromley; T Roderick
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

6.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

7.  Alport's syndrome: experience at Hôpital Necker.

Authors:  R Habib; M C Gubler; N Hinglais; L H Noël; D Droz; M Levy; P Mahieu; J M Foidart; D Perrin; E Bois; J P Grünfeld
Journal:  Kidney Int Suppl       Date:  1982-05       Impact factor: 10.545

8.  An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.

Authors:  F P Cremers; R A Pfeiffer; T J van de Pol; M H Hofker; T A Kruse; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Genetic heterogeneity among kindreds with Alport syndrome.

Authors:  S J Hasstedt; C L Atkin; A C San Juan
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025
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  8 in total

1.  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

Review 2.  Alport syndrome, basement membranes and collagen.

Authors:  C E Kashtan; M M Kleppel; R J Butkowski; A F Michael; A J Fish
Journal:  Pediatr Nephrol       Date:  1990-09       Impact factor: 3.714

3.  Should women who are known or potential carriers of the Alport gene be accepted as kidney donors?

Authors:  C E Kashtan
Journal:  Pediatr Nephrol       Date:  1990-05       Impact factor: 3.714

4.  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

5.  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

6.  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

7.  Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

Authors:  B Knebelmann; G Deschenes; F Gros; M C Hors; J P Grünfeld; J Zhou; K Tryggvason; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

Review 8.  Molecular aspects of Alport's syndrome.

Authors:  M Weber; K O Netzer; O Pullig
Journal:  Clin Investig       Date:  1992-09
  8 in total

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